Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522115T>C , CM000671.2:g.131522115T>C	GRCh38
NC_000009.11:g.134397502T>C , CM000671.1:g.134397502T>C	GRCh37
NC_000009.10:g.133387323T>C	NCBI36
NG_008896.1:g.24214T>C
NG_008896.2:g.24214T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1732T>C	ENSP00000343034.7:p.Phe578Leu
ENST00000404875.7:n.2434T>C
ENST00000423007.6:c.1951T>C	ENSP00000404119.2:p.Phe651Leu
ENST00000677295.2:c.*2238T>C	ENSP00000504346.2:n.*2238T>C
ENST00000678264.2:c.*2077T>C	ENSP00000503157.2:n.*2077T>C
ENST00000682070.1:n.2291-87T>C
ENST00000682813.1:n.2298T>C
ENST00000683392.1:n.4573-87T>C
ENST00000683712.1:n.2299T>C
ENST00000683900.1:n.3794T>C
ENST00000684062.1:n.2560T>C
ENST00000684579.1:n.3740T>C
ENST00000684679.1:n.1121T>C
ENST00000341012.12:c.1732T>C	ENSP00000343034.7:p.Phe578Leu
ENST00000372220.5:c.763T>C	ENSP00000361294.5:p.Phe255Leu
ENST00000372228.9:c.1960T>C	ENSP00000361302.3:p.Phe654Leu
ENST00000402686.8:c.1894T>C MANE Select	ENSP00000385797.4:p.Phe632Leu
ENST00000676640.1:c.1894T>C	ENSP00000503281.1:p.Phe632Leu
ENST00000676803.1:c.955T>C	ENSP00000503093.1:p.Phe319Leu
ENST00000676835.1:c.*1109T>C	ENSP00000502911.1:n.*1109T>C
ENST00000677029.1:c.1438T>C	ENSP00000502936.1:p.Phe480Leu
ENST00000677099.1:c.*1604T>C	ENSP00000504553.1:n.*1604T>C
ENST00000677216.1:c.1543T>C	ENSP00000503772.1:p.Phe515Leu
ENST00000677221.1:n.919T>C
ENST00000677295.1:c.*1203-87T>C	ENSP00000504346.1:n.*1203-87T>C
ENST00000677444.1:c.1839T>C
ENST00000677586.1:n.1261T>C
ENST00000677626.1:c.1543T>C	ENSP00000503552.1:p.Phe515Leu
ENST00000677853.1:c.*902T>C	ENSP00000503488.1:n.*902T>C
ENST00000678202.1:n.1053T>C
ENST00000678264.1:c.*1271T>C	ENSP00000503157.1:n.*1271T>C
ENST00000678303.1:c.1804T>C	ENSP00000503696.1:p.Phe602Leu
ENST00000678366.1:c.*2143T>C	ENSP00000504353.1:n.*2143T>C
ENST00000678546.1:c.*1839T>C	ENSP00000503062.1:n.*1839T>C
ENST00000678548.1:c.*2033T>C	ENSP00000503934.1:n.*2033T>C
ENST00000678626.1:n.1730T>C
ENST00000678739.1:c.*2147-87T>C	ENSP00000503806.1:n.*2147-87T>C
ENST00000678833.1:c.*1646T>C	ENSP00000503893.1:n.*1646T>C
ENST00000679023.1:c.1732T>C	ENSP00000503718.1:p.Phe578Leu
ENST00000679076.1:c.1513T>C
ENST00000679111.1:c.*650T>C	ENSP00000504257.1:n.*650T>C
ENST00000679189.1:c.1543T>C	ENSP00000503356.1:p.Phe515Leu
ENST00000341012.11:c.1732T>C	ENSP00000343034.7:p.Phe578Leu
ENST00000372220.4:c.757T>C	ENSP00000361294.4:p.Phe253Leu
ENST00000372228.7:c.1960T>C	ENSP00000361302.3:p.Phe654Leu
ENST00000402686.7:c.1894T>C	ENSP00000385797.3:p.Phe632Leu
ENST00000404875.6:c.1543T>C	ENSP00000384531.2:p.Phe515Leu
ENST00000423007.5:c.1894T>C	ENSP00000404119.1:p.Phe632Leu
ENST00000485278.5:n.2444T>C
ENST00000494883.1:n.437T>C
NM_001077365.1:c.1894T>C	NP_001070833.1:p.Phe632Leu
NM_001077366.1:c.1732T>C	NP_001070834.1:p.Phe578Leu
NM_001136113.1:c.1894T>C	NP_001129585.1:p.Phe632Leu
NM_001136114.1:c.1543T>C	NP_001129586.1:p.Phe515Leu
NM_007171.3:c.1960T>C	NP_009102.3:p.Phe654Leu
XM_005272156.1:c.1960T>C	XP_005272213.1:p.Phe654Leu
XM_005272158.1:c.1798T>C	XP_005272215.1:p.Phe600Leu
XM_005272159.1:c.1609T>C	XP_005272216.1:p.Phe537Leu
XM_005272162.1:c.763T>C	XP_005272219.1:p.Phe255Leu
XM_006716932.1:c.1609T>C	XP_006716995.1:p.Phe537Leu
XM_011518140.1:c.1813T>C	XP_011516442.1:p.Phe605Leu
XM_011518141.1:c.1747T>C	XP_011516443.1:p.Phe583Leu
XM_011518142.1:c.1651T>C	XP_011516444.1:p.Phe551Leu
XM_011518143.1:c.1645T>C	XP_011516445.1:p.Phe549Leu
XM_011518145.1:c.1504T>C	XP_011516447.1:p.Phe502Leu
XM_011518147.1:c.832T>C	XP_011516449.1:p.Phe278Leu
XR_929703.1:n.2136T>C
NM_001353193.1:c.1960T>C	NP_001340122.1:p.Phe654Leu
NM_001353194.1:c.1732T>C	NP_001340123.1:p.Phe578Leu
NM_001353195.1:c.1543T>C	NP_001340124.1:p.Phe515Leu
NM_001353196.1:c.1804T>C	NP_001340125.1:p.Phe602Leu
NM_001353197.1:c.1798T>C	NP_001340126.1:p.Phe600Leu
NM_001353198.1:c.1798T>C	NP_001340127.1:p.Phe600Leu
NM_001353199.1:c.1609T>C	NP_001340128.1:p.Phe537Leu
NM_001353200.1:c.1438T>C	NP_001340129.1:p.Phe480Leu
NR_148391.1:n.1944T>C
NR_148392.1:n.2162T>C
NR_148393.1:n.2083T>C
NR_148394.1:n.1837T>C
NR_148395.1:n.2235T>C
NR_148396.1:n.1869T>C
NR_148397.1:n.1994T>C
NR_148398.1:n.1949T>C
NR_148399.1:n.2475T>C
NR_148400.1:n.2074T>C
XM_005272162.3:c.763T>C	XP_005272219.1:p.Phe255Leu
XM_006716932.2:c.1609T>C	XP_006716995.1:p.Phe537Leu
XM_011518140.2:c.1813T>C	XP_011516442.1:p.Phe605Leu
XM_011518141.2:c.1747T>C	XP_011516443.1:p.Phe583Leu
XM_011518142.2:c.1651T>C	XP_011516444.1:p.Phe551Leu
XM_011518143.2:c.1645T>C	XP_011516445.1:p.Phe549Leu
XM_011518145.2:c.1504T>C	XP_011516447.1:p.Phe502Leu
XM_017014205.2:c.763T>C	XP_016869694.1:p.Phe255Leu
XM_024447380.1:c.763T>C	XP_024303148.1:p.Phe255Leu
XM_024447381.1:c.1069T>C	XP_024303149.1:p.Phe357Leu
XM_024447382.1:c.763T>C	XP_024303150.1:p.Phe255Leu
XR_001746160.2:n.2064T>C
XR_001746162.2:n.2269T>C
XR_001746164.1:n.1986T>C
XR_001746166.2:n.2281T>C
NM_001077365.2:c.1894T>C MANE Select	NP_001070833.1:p.Phe632Leu
NM_001077366.2:c.1732T>C	NP_001070834.1:p.Phe578Leu
NM_001136113.2:c.1894T>C	NP_001129585.1:p.Phe632Leu
NM_001136114.2:c.1543T>C	NP_001129586.1:p.Phe515Leu
NM_001353193.2:c.1960T>C	NP_001340122.2:p.Phe654Leu
NM_001353194.2:c.1732T>C	NP_001340123.1:p.Phe578Leu
NM_001353195.2:c.1543T>C	NP_001340124.1:p.Phe515Leu
NM_001353196.2:c.1804T>C	NP_001340125.1:p.Phe602Leu
NM_001353197.2:c.1798T>C	NP_001340126.2:p.Phe600Leu
NM_001353198.2:c.1798T>C	NP_001340127.2:p.Phe600Leu
NM_001353199.2:c.1609T>C	NP_001340128.2:p.Phe537Leu
NM_001353200.2:c.1438T>C	NP_001340129.1:p.Phe480Leu
NM_001374689.1:c.1882T>C	NP_001361618.1:p.Phe628Leu
NM_001374690.1:c.1675T>C	NP_001361619.1:p.Phe559Leu
NM_001374691.1:c.1543T>C	NP_001361620.1:p.Phe515Leu
NM_001374692.1:c.1543T>C	NP_001361621.1:p.Phe515Leu
NM_001374693.1:c.1543T>C	NP_001361622.1:p.Phe515Leu
NM_001374695.1:c.1504T>C	NP_001361624.1:p.Phe502Leu
NM_007171.4:c.1960T>C	NP_009102.4:p.Phe654Leu
NR_148391.2:n.1928T>C
NR_148392.2:n.2146T>C
NR_148393.2:n.2067T>C
NR_148394.2:n.1821T>C
NR_148395.2:n.2219T>C
NR_148396.2:n.1853T>C
NR_148397.2:n.1978T>C
NR_148398.2:n.1933T>C
NR_148399.2:n.2459T>C
NR_148400.2:n.2058T>C

Linked Data

Genomic Alleles

Transcript Alleles