Canonical Allele Identifier: CA3597647
Community Standard Title: NM_001257293.2(HNRNPH1):c.664A>G (p.Ile222Val)
Gene: HNRNPH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179618196T>C , CM000667.2:g.179618196T>C GRCh38
NC_000005.9:g.179045197T>C , CM000667.1:g.179045197T>C GRCh37
NC_000005.8:g.178977803T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001257293.2:c.664A>G MANE Select NP_001244222.1:p.Ile222Val
ENST00000393432.9:c.664A>G MANE Select ENSP00000377082.4:p.Ile222Val
NM_001257293.1:c.664A>G NP_001244222.1:p.Ile222Val
NM_001363572.1:c.664A>G NP_001350501.1:p.Ile222Val
NM_001363572.2:c.664A>G NP_001350501.1:p.Ile222Val
NM_001364225.1:c.664A>G NP_001351154.1:p.Ile222Val
NM_001364225.2:c.664A>G NP_001351154.1:p.Ile222Val
NM_001364226.1:c.664A>G NP_001351155.1:p.Ile222Val
NM_001364226.2:c.664A>G NP_001351155.1:p.Ile222Val
NM_001364227.1:c.664A>G NP_001351156.1:p.Ile222Val
NM_001364227.2:c.664A>G NP_001351156.1:p.Ile222Val
NM_001364228.1:c.664A>G NP_001351157.1:p.Ile222Val
NM_001364228.2:c.664A>G NP_001351157.1:p.Ile222Val
NM_001364229.1:c.664A>G NP_001351158.1:p.Ile222Val
NM_001364229.2:c.664A>G NP_001351158.1:p.Ile222Val
NM_001364230.1:c.664A>G NP_001351159.1:p.Ile222Val
NM_001364230.2:c.664A>G NP_001351159.1:p.Ile222Val
NM_001364231.1:c.664A>G NP_001351160.1:p.Ile222Val
NM_001364231.2:c.664A>G NP_001351160.1:p.Ile222Val
NM_001364232.1:c.664A>G NP_001351161.1:p.Ile222Val
NM_001364232.2:c.664A>G NP_001351161.1:p.Ile222Val
NM_001364233.1:c.664A>G NP_001351162.1:p.Ile222Val
NM_001364233.2:c.664A>G NP_001351162.1:p.Ile222Val
NM_001364234.1:c.664A>G NP_001351163.1:p.Ile222Val
NM_001364234.2:c.664A>G NP_001351163.1:p.Ile222Val
NM_001364235.1:c.664A>G NP_001351164.1:p.Ile222Val
NM_001364235.2:c.664A>G NP_001351164.1:p.Ile222Val
NM_001364236.1:c.664A>G NP_001351165.1:p.Ile222Val
NM_001364236.2:c.664A>G NP_001351165.1:p.Ile222Val
NM_001364237.1:c.664A>G NP_001351166.1:p.Ile222Val
NM_001364237.2:c.664A>G NP_001351166.1:p.Ile222Val
NM_001364238.1:c.664A>G NP_001351167.1:p.Ile222Val
NM_001364238.2:c.664A>G NP_001351167.1:p.Ile222Val
NM_001364239.1:c.664A>G NP_001351168.1:p.Ile222Val
NM_001364239.2:c.664A>G NP_001351168.1:p.Ile222Val
NM_001364240.1:c.664A>G NP_001351169.1:p.Ile222Val
NM_001364240.2:c.664A>G NP_001351169.1:p.Ile222Val
NM_001364241.1:c.664A>G NP_001351170.1:p.Ile222Val
NM_001364241.2:c.664A>G NP_001351170.1:p.Ile222Val
NM_001364242.1:c.664A>G NP_001351171.1:p.Ile222Val
NM_001364242.2:c.664A>G NP_001351171.1:p.Ile222Val
NM_001364243.1:c.664A>G NP_001351172.1:p.Ile222Val
NM_001364243.2:c.664A>G NP_001351172.1:p.Ile222Val
NM_001364244.1:c.664A>G NP_001351173.1:p.Ile222Val
NM_001364244.2:c.664A>G NP_001351173.1:p.Ile222Val
NM_001364245.1:c.664A>G NP_001351174.1:p.Ile222Val
NM_001364245.2:c.664A>G NP_001351174.1:p.Ile222Val
NM_001364246.1:c.664A>G NP_001351175.1:p.Ile222Val
NM_001364246.2:c.664A>G NP_001351175.1:p.Ile222Val
NM_001364247.1:c.664A>G NP_001351176.1:p.Ile222Val
NM_001364247.2:c.664A>G NP_001351176.1:p.Ile222Val
NM_001364248.1:c.664A>G NP_001351177.1:p.Ile222Val
NM_001364248.2:c.664A>G NP_001351177.1:p.Ile222Val
NM_001364250.1:c.508A>G NP_001351179.1:p.Ile170Val
NM_001364250.2:c.508A>G NP_001351179.1:p.Ile170Val
NM_001364251.1:c.61A>G NP_001351180.1:p.Ile21Val
NM_001364251.2:c.61A>G NP_001351180.1:p.Ile21Val
NM_001364252.1:c.61A>G NP_001351181.1:p.Ile21Val
NM_001364252.2:c.61A>G NP_001351181.1:p.Ile21Val
NM_001364253.1:c.61A>G NP_001351182.1:p.Ile21Val
NM_001364253.2:c.61A>G NP_001351182.1:p.Ile21Val
NM_001364254.1:c.61A>G NP_001351183.1:p.Ile21Val
NM_001364254.2:c.61A>G NP_001351183.1:p.Ile21Val
NM_001364255.1:c.61A>G NP_001351184.1:p.Ile21Val
NM_001364255.2:c.61A>G NP_001351184.1:p.Ile21Val
NM_001395176.1:c.664A>G NP_001382105.1:p.Ile222Val
NM_001395177.1:c.664A>G NP_001382106.1:p.Ile222Val
NM_001395178.1:c.664A>G NP_001382107.1:p.Ile222Val
NM_001395179.1:c.664A>G NP_001382108.1:p.Ile222Val
NM_001395180.1:c.664A>G NP_001382109.1:p.Ile222Val
NM_001395181.1:c.664A>G NP_001382110.1:p.Ile222Val
NM_001395182.1:c.664A>G NP_001382111.1:p.Ile222Val
NM_001395183.1:c.664A>G NP_001382112.1:p.Ile222Val
NM_001395184.1:c.664A>G NP_001382113.1:p.Ile222Val
NM_001395186.1:c.664A>G NP_001382115.1:p.Ile222Val
NM_001395187.1:c.664A>G NP_001382116.1:p.Ile222Val
NM_001395188.1:c.664A>G NP_001382117.1:p.Ile222Val
NM_001395189.1:c.664A>G NP_001382118.1:p.Ile222Val
NM_001395190.1:c.433A>G NP_001382119.1:p.Ile145Val
NM_001395191.1:c.398-136A>G NP_001382120.1:n.398-136A>G
NM_001395192.1:c.398-136A>G NP_001382121.1:n.398-136A>G
NM_001395193.1:c.398-285A>G NP_001382122.1:n.398-285A>G
NM_001395194.1:c.61A>G NP_001382123.1:p.Ile21Val
NM_001395195.1:c.61A>G NP_001382124.1:p.Ile21Val
NM_005520.2:c.664A>G NP_005511.1:p.Ile222Val
NM_005520.3:c.664A>G NP_005511.1:p.Ile222Val
ENST00000329433.10:c.664A>G ENSP00000327539.6:p.Ile222Val
ENST00000329433.11:c.664A>G ENSP00000327539.6:p.Ile222Val
ENST00000356731.9:c.664A>G ENSP00000349168.5:p.Ile222Val
ENST00000393432.8:c.664A>G ENSP00000377082.4:p.Ile222Val
ENST00000442819.6:c.664A>G ENSP00000397797.2:p.Ile222Val
ENST00000502632.5:n.258A>G
ENST00000502904.5:n.704A>G
ENST00000503105.5:c.398-285A>G ENSP00000427408.1:n.398-285A>G
ENST00000504549.5:n.320A>G
ENST00000504779.6:c.*536A>G ENSP00000422955.2:n.*536A>G
ENST00000505811.6:c.664A>G ENSP00000424087.2:p.Ile222Val
ENST00000506721.6:c.525A>G ENSP00000420850.2:p.Ala175=
ENST00000508103.6:c.525A>G ENSP00000425732.2:p.Ala175=
ENST00000510411.5:c.664A>G ENSP00000426275.1:p.Ile222Val
ENST00000510411.6:c.664A>G ENSP00000426275.1:p.Ile222Val
ENST00000510431.6:c.525A>G ENSP00000423140.2:p.Ala175=
ENST00000510678.5:c.525A>G ENSP00000425851.1:p.Ala175=
ENST00000510678.6:c.525A>G ENSP00000425851.1:p.Ala175=
ENST00000513225.6:c.664A>G ENSP00000426518.2:p.Ile222Val
ENST00000514332.5:n.978A>G
ENST00000514731.5:n.631A>G
ENST00000515158.6:c.664A>G ENSP00000421695.2:p.Ile222Val
ENST00000515481.5:n.1837A>G
ENST00000515714.6:c.664A>G ENSP00000425343.2:p.Ile222Val
ENST00000518548.5:n.492A>G
ENST00000519958.5:c.366A>G ENSP00000427845.1:p.Ala122=
ENST00000520415.1:n.568A>G
ENST00000521116.6:c.664A>G ENSP00000429661.2:p.Ile222Val
ENST00000521173.5:c.288A>G
ENST00000521173.6:c.288A>G
ENST00000523921.1:c.106A>G ENSP00000429270.1:p.Ile36Val
ENST00000523921.2:c.664A>G ENSP00000429270.2:p.Ile222Val
ENST00000706924.1:c.664A>G ENSP00000516644.1:p.Ile222Val
XM_005265895.2:c.664A>G XP_005265952.1:p.Ile222Val
XM_005265896.2:c.664A>G XP_005265953.1:p.Ile222Val
XM_005265901.1:c.61A>G XP_005265958.1:p.Ile21Val
XM_005265902.3:c.61A>G XP_005265959.1:p.Ile21Val
XM_006714862.2:c.664A>G XP_006714925.1:p.Ile222Val
XM_006714863.2:c.664A>G XP_006714926.1:p.Ile222Val
XM_011534541.1:c.664A>G XP_011532843.1:p.Ile222Val
XM_011534542.1:c.664A>G XP_011532844.1:p.Ile222Val
XM_011534542.2:c.664A>G XP_011532844.1:p.Ile222Val
XM_011534543.1:c.664A>G XP_011532845.1:p.Ile222Val
XM_011534544.1:c.664A>G XP_011532846.1:p.Ile222Val
XM_011534544.2:c.664A>G XP_011532846.1:p.Ile222Val
XM_011534545.1:c.664A>G XP_011532847.1:p.Ile222Val
XM_011534546.1:c.664A>G XP_011532848.1:p.Ile222Val
XM_011534547.1:c.664A>G XP_011532849.1:p.Ile222Val
XM_011534547.2:c.664A>G XP_011532849.1:p.Ile222Val
XM_017009423.2:c.61A>G XP_016864912.1:p.Ile21Val
XM_017009424.1:c.175A>G XP_016864913.1:p.Ile59Val
XM_017009425.2:c.61A>G XP_016864914.1:p.Ile21Val
XM_024446039.1:c.664A>G XP_024301807.1:p.Ile222Val