Canonical Allele Identifier: CA375314313

Gene: POMT1

Linked Data

• dbSNP Id: rs1433638763
• MyVariant Identifiers: chr9:g.134397491A>G (hg19) ; chr9:g.131522104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522104A>G , CM000671.2:g.131522104A>G	GRCh38
NC_000009.11:g.134397491A>G , CM000671.1:g.134397491A>G	GRCh37
NC_000009.10:g.133387312A>G	NCBI36
NG_008896.1:g.24203A>G
NG_008896.2:g.24203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1721A>G	ENSP00000343034.7:p.Asn574Ser
ENST00000404875.7:n.2423A>G
ENST00000423007.6:c.1940A>G	ENSP00000404119.2:p.Asn647Ser
ENST00000677295.2:c.*2227A>G	ENSP00000504346.2:n.*2227A>G
ENST00000678264.2:c.*2066A>G	ENSP00000503157.2:n.*2066A>G
ENST00000682070.1:n.2291-98A>G
ENST00000682813.1:n.2287A>G
ENST00000683392.1:n.4573-98A>G
ENST00000683712.1:n.2288A>G
ENST00000683900.1:n.3783A>G
ENST00000684062.1:n.2549A>G
ENST00000684579.1:n.3729A>G
ENST00000684679.1:n.1110A>G
ENST00000341012.12:c.1721A>G	ENSP00000343034.7:p.Asn574Ser
ENST00000372220.5:c.752A>G	ENSP00000361294.5:p.Asn251Ser
ENST00000372228.9:c.1949A>G	ENSP00000361302.3:p.Asn650Ser
ENST00000402686.8:c.1883A>G MANE Select	ENSP00000385797.4:p.Asn628Ser
ENST00000676640.1:c.1883A>G	ENSP00000503281.1:p.Asn628Ser
ENST00000676803.1:c.944A>G	ENSP00000503093.1:p.Asn315Ser
ENST00000676835.1:c.*1098A>G	ENSP00000502911.1:n.*1098A>G
ENST00000677029.1:c.1427A>G	ENSP00000502936.1:p.Asn476Ser
ENST00000677099.1:c.*1593A>G	ENSP00000504553.1:n.*1593A>G
ENST00000677216.1:c.1532A>G	ENSP00000503772.1:p.Asn511Ser
ENST00000677221.1:n.908A>G
ENST00000677295.1:c.*1203-98A>G	ENSP00000504346.1:n.*1203-98A>G
ENST00000677444.1:c.1828A>G
ENST00000677586.1:n.1250A>G
ENST00000677626.1:c.1532A>G	ENSP00000503552.1:p.Asn511Ser
ENST00000677853.1:c.*891A>G	ENSP00000503488.1:n.*891A>G
ENST00000678202.1:n.1042A>G
ENST00000678264.1:c.*1260A>G	ENSP00000503157.1:n.*1260A>G
ENST00000678303.1:c.1793A>G	ENSP00000503696.1:p.Asn598Ser
ENST00000678366.1:c.*2132A>G	ENSP00000504353.1:n.*2132A>G
ENST00000678546.1:c.*1828A>G	ENSP00000503062.1:n.*1828A>G
ENST00000678548.1:c.*2022A>G	ENSP00000503934.1:n.*2022A>G
ENST00000678626.1:n.1719A>G
ENST00000678739.1:c.*2147-98A>G	ENSP00000503806.1:n.*2147-98A>G
ENST00000678833.1:c.*1635A>G	ENSP00000503893.1:n.*1635A>G
ENST00000679023.1:c.1721A>G	ENSP00000503718.1:p.Asn574Ser
ENST00000679076.1:c.1502A>G
ENST00000679111.1:c.*639A>G	ENSP00000504257.1:n.*639A>G
ENST00000679189.1:c.1532A>G	ENSP00000503356.1:p.Asn511Ser
ENST00000341012.11:c.1721A>G	ENSP00000343034.7:p.Asn574Ser
ENST00000372220.4:c.746A>G	ENSP00000361294.4:p.Asn249Ser
ENST00000372228.7:c.1949A>G	ENSP00000361302.3:p.Asn650Ser
ENST00000402686.7:c.1883A>G	ENSP00000385797.3:p.Asn628Ser
ENST00000404875.6:c.1532A>G	ENSP00000384531.2:p.Asn511Ser
ENST00000423007.5:c.1883A>G	ENSP00000404119.1:p.Asn628Ser
ENST00000485278.5:n.2433A>G
ENST00000494883.1:n.426A>G
NM_001077365.1:c.1883A>G	NP_001070833.1:p.Asn628Ser
NM_001077366.1:c.1721A>G	NP_001070834.1:p.Asn574Ser
NM_001136113.1:c.1883A>G	NP_001129585.1:p.Asn628Ser
NM_001136114.1:c.1532A>G	NP_001129586.1:p.Asn511Ser
NM_007171.3:c.1949A>G	NP_009102.3:p.Asn650Ser
XM_005272156.1:c.1949A>G	XP_005272213.1:p.Asn650Ser
XM_005272158.1:c.1787A>G	XP_005272215.1:p.Asn596Ser
XM_005272159.1:c.1598A>G	XP_005272216.1:p.Asn533Ser
XM_005272162.1:c.752A>G	XP_005272219.1:p.Asn251Ser
XM_006716932.1:c.1598A>G	XP_006716995.1:p.Asn533Ser
XM_011518140.1:c.1802A>G	XP_011516442.1:p.Asn601Ser
XM_011518141.1:c.1736A>G	XP_011516443.1:p.Asn579Ser
XM_011518142.1:c.1640A>G	XP_011516444.1:p.Asn547Ser
XM_011518143.1:c.1634A>G	XP_011516445.1:p.Asn545Ser
XM_011518145.1:c.1493A>G	XP_011516447.1:p.Asn498Ser
XM_011518147.1:c.821A>G	XP_011516449.1:p.Asn274Ser
XR_929703.1:n.2125A>G
NM_001353193.1:c.1949A>G	NP_001340122.1:p.Asn650Ser
NM_001353194.1:c.1721A>G	NP_001340123.1:p.Asn574Ser
NM_001353195.1:c.1532A>G	NP_001340124.1:p.Asn511Ser
NM_001353196.1:c.1793A>G	NP_001340125.1:p.Asn598Ser
NM_001353197.1:c.1787A>G	NP_001340126.1:p.Asn596Ser
NM_001353198.1:c.1787A>G	NP_001340127.1:p.Asn596Ser
NM_001353199.1:c.1598A>G	NP_001340128.1:p.Asn533Ser
NM_001353200.1:c.1427A>G	NP_001340129.1:p.Asn476Ser
NR_148391.1:n.1933A>G
NR_148392.1:n.2151A>G
NR_148393.1:n.2072A>G
NR_148394.1:n.1826A>G
NR_148395.1:n.2224A>G
NR_148396.1:n.1858A>G
NR_148397.1:n.1983A>G
NR_148398.1:n.1938A>G
NR_148399.1:n.2464A>G
NR_148400.1:n.2063A>G
XM_005272162.3:c.752A>G	XP_005272219.1:p.Asn251Ser
XM_006716932.2:c.1598A>G	XP_006716995.1:p.Asn533Ser
XM_011518140.2:c.1802A>G	XP_011516442.1:p.Asn601Ser
XM_011518141.2:c.1736A>G	XP_011516443.1:p.Asn579Ser
XM_011518142.2:c.1640A>G	XP_011516444.1:p.Asn547Ser
XM_011518143.2:c.1634A>G	XP_011516445.1:p.Asn545Ser
XM_011518145.2:c.1493A>G	XP_011516447.1:p.Asn498Ser
XM_017014205.2:c.752A>G	XP_016869694.1:p.Asn251Ser
XM_024447380.1:c.752A>G	XP_024303148.1:p.Asn251Ser
XM_024447381.1:c.1058A>G	XP_024303149.1:p.Asn353Ser
XM_024447382.1:c.752A>G	XP_024303150.1:p.Asn251Ser
XR_001746160.2:n.2053A>G
XR_001746162.2:n.2258A>G
XR_001746164.1:n.1975A>G
XR_001746166.2:n.2270A>G
NM_001077365.2:c.1883A>G MANE Select	NP_001070833.1:p.Asn628Ser
NM_001077366.2:c.1721A>G	NP_001070834.1:p.Asn574Ser
NM_001136113.2:c.1883A>G	NP_001129585.1:p.Asn628Ser
NM_001136114.2:c.1532A>G	NP_001129586.1:p.Asn511Ser
NM_001353193.2:c.1949A>G	NP_001340122.2:p.Asn650Ser
NM_001353194.2:c.1721A>G	NP_001340123.1:p.Asn574Ser
NM_001353195.2:c.1532A>G	NP_001340124.1:p.Asn511Ser
NM_001353196.2:c.1793A>G	NP_001340125.1:p.Asn598Ser
NM_001353197.2:c.1787A>G	NP_001340126.2:p.Asn596Ser
NM_001353198.2:c.1787A>G	NP_001340127.2:p.Asn596Ser
NM_001353199.2:c.1598A>G	NP_001340128.2:p.Asn533Ser
NM_001353200.2:c.1427A>G	NP_001340129.1:p.Asn476Ser
NM_001374689.1:c.1871A>G	NP_001361618.1:p.Asn624Ser
NM_001374690.1:c.1664A>G	NP_001361619.1:p.Asn555Ser
NM_001374691.1:c.1532A>G	NP_001361620.1:p.Asn511Ser
NM_001374692.1:c.1532A>G	NP_001361621.1:p.Asn511Ser
NM_001374693.1:c.1532A>G	NP_001361622.1:p.Asn511Ser
NM_001374695.1:c.1493A>G	NP_001361624.1:p.Asn498Ser
NM_007171.4:c.1949A>G	NP_009102.4:p.Asn650Ser
NR_148391.2:n.1917A>G
NR_148392.2:n.2135A>G
NR_148393.2:n.2056A>G
NR_148394.2:n.1810A>G
NR_148395.2:n.2208A>G
NR_148396.2:n.1842A>G
NR_148397.2:n.1967A>G
NR_148398.2:n.1922A>G
NR_148399.2:n.2448A>G
NR_148400.2:n.2047A>G