Canonical Allele Identifier: CA375314287

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397484G>C (hg19) ; chr9:g.131522097G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522097G>C , CM000671.2:g.131522097G>C	GRCh38
NC_000009.11:g.134397484G>C , CM000671.1:g.134397484G>C	GRCh37
NC_000009.10:g.133387305G>C	NCBI36
NG_008896.1:g.24196G>C
NG_008896.2:g.24196G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1714G>C	ENSP00000343034.7:p.Ala572Pro
ENST00000404875.7:n.2416G>C
ENST00000423007.6:c.1933G>C	ENSP00000404119.2:p.Ala645Pro
ENST00000677295.2:c.*2220G>C	ENSP00000504346.2:n.*2220G>C
ENST00000678264.2:c.*2059G>C	ENSP00000503157.2:n.*2059G>C
ENST00000682070.1:n.2291-105G>C
ENST00000682813.1:n.2280G>C
ENST00000683392.1:n.4573-105G>C
ENST00000683712.1:n.2281G>C
ENST00000683900.1:n.3776G>C
ENST00000684062.1:n.2542G>C
ENST00000684579.1:n.3722G>C
ENST00000684679.1:n.1103G>C
ENST00000341012.12:c.1714G>C	ENSP00000343034.7:p.Ala572Pro
ENST00000372220.5:c.745G>C	ENSP00000361294.5:p.Ala249Pro
ENST00000372228.9:c.1942G>C	ENSP00000361302.3:p.Ala648Pro
ENST00000402686.8:c.1876G>C MANE Select	ENSP00000385797.4:p.Ala626Pro
ENST00000676640.1:c.1876G>C	ENSP00000503281.1:p.Ala626Pro
ENST00000676803.1:c.937G>C	ENSP00000503093.1:p.Ala313Pro
ENST00000676835.1:c.*1091G>C	ENSP00000502911.1:n.*1091G>C
ENST00000677029.1:c.1420G>C	ENSP00000502936.1:p.Ala474Pro
ENST00000677099.1:c.*1586G>C	ENSP00000504553.1:n.*1586G>C
ENST00000677216.1:c.1525G>C	ENSP00000503772.1:p.Ala509Pro
ENST00000677221.1:n.901G>C
ENST00000677295.1:c.*1203-105G>C	ENSP00000504346.1:n.*1203-105G>C
ENST00000677444.1:c.1821G>C
ENST00000677586.1:n.1243G>C
ENST00000677626.1:c.1525G>C	ENSP00000503552.1:p.Ala509Pro
ENST00000677853.1:c.*884G>C	ENSP00000503488.1:n.*884G>C
ENST00000678202.1:n.1035G>C
ENST00000678264.1:c.*1253G>C	ENSP00000503157.1:n.*1253G>C
ENST00000678303.1:c.1786G>C	ENSP00000503696.1:p.Ala596Pro
ENST00000678366.1:c.*2125G>C	ENSP00000504353.1:n.*2125G>C
ENST00000678546.1:c.*1821G>C	ENSP00000503062.1:n.*1821G>C
ENST00000678548.1:c.*2015G>C	ENSP00000503934.1:n.*2015G>C
ENST00000678626.1:n.1712G>C
ENST00000678739.1:c.*2147-105G>C	ENSP00000503806.1:n.*2147-105G>C
ENST00000678833.1:c.*1628G>C	ENSP00000503893.1:n.*1628G>C
ENST00000679023.1:c.1714G>C	ENSP00000503718.1:p.Ala572Pro
ENST00000679076.1:c.1495G>C
ENST00000679111.1:c.*632G>C	ENSP00000504257.1:n.*632G>C
ENST00000679189.1:c.1525G>C	ENSP00000503356.1:p.Ala509Pro
ENST00000341012.11:c.1714G>C	ENSP00000343034.7:p.Ala572Pro
ENST00000372220.4:c.739G>C	ENSP00000361294.4:p.Ala247Pro
ENST00000372228.7:c.1942G>C	ENSP00000361302.3:p.Ala648Pro
ENST00000402686.7:c.1876G>C	ENSP00000385797.3:p.Ala626Pro
ENST00000404875.6:c.1525G>C	ENSP00000384531.2:p.Ala509Pro
ENST00000423007.5:c.1876G>C	ENSP00000404119.1:p.Ala626Pro
ENST00000485278.5:n.2426G>C
ENST00000494883.1:n.419G>C
NM_001077365.1:c.1876G>C	NP_001070833.1:p.Ala626Pro
NM_001077366.1:c.1714G>C	NP_001070834.1:p.Ala572Pro
NM_001136113.1:c.1876G>C	NP_001129585.1:p.Ala626Pro
NM_001136114.1:c.1525G>C	NP_001129586.1:p.Ala509Pro
NM_007171.3:c.1942G>C	NP_009102.3:p.Ala648Pro
XM_005272156.1:c.1942G>C	XP_005272213.1:p.Ala648Pro
XM_005272158.1:c.1780G>C	XP_005272215.1:p.Ala594Pro
XM_005272159.1:c.1591G>C	XP_005272216.1:p.Ala531Pro
XM_005272162.1:c.745G>C	XP_005272219.1:p.Ala249Pro
XM_006716932.1:c.1591G>C	XP_006716995.1:p.Ala531Pro
XM_011518140.1:c.1795G>C	XP_011516442.1:p.Ala599Pro
XM_011518141.1:c.1729G>C	XP_011516443.1:p.Ala577Pro
XM_011518142.1:c.1633G>C	XP_011516444.1:p.Ala545Pro
XM_011518143.1:c.1627G>C	XP_011516445.1:p.Ala543Pro
XM_011518145.1:c.1486G>C	XP_011516447.1:p.Ala496Pro
XM_011518147.1:c.814G>C	XP_011516449.1:p.Ala272Pro
XR_929703.1:n.2118G>C
NM_001353193.1:c.1942G>C	NP_001340122.1:p.Ala648Pro
NM_001353194.1:c.1714G>C	NP_001340123.1:p.Ala572Pro
NM_001353195.1:c.1525G>C	NP_001340124.1:p.Ala509Pro
NM_001353196.1:c.1786G>C	NP_001340125.1:p.Ala596Pro
NM_001353197.1:c.1780G>C	NP_001340126.1:p.Ala594Pro
NM_001353198.1:c.1780G>C	NP_001340127.1:p.Ala594Pro
NM_001353199.1:c.1591G>C	NP_001340128.1:p.Ala531Pro
NM_001353200.1:c.1420G>C	NP_001340129.1:p.Ala474Pro
NR_148391.1:n.1926G>C
NR_148392.1:n.2144G>C
NR_148393.1:n.2065G>C
NR_148394.1:n.1819G>C
NR_148395.1:n.2217G>C
NR_148396.1:n.1851G>C
NR_148397.1:n.1976G>C
NR_148398.1:n.1931G>C
NR_148399.1:n.2457G>C
NR_148400.1:n.2056G>C
XM_005272162.3:c.745G>C	XP_005272219.1:p.Ala249Pro
XM_006716932.2:c.1591G>C	XP_006716995.1:p.Ala531Pro
XM_011518140.2:c.1795G>C	XP_011516442.1:p.Ala599Pro
XM_011518141.2:c.1729G>C	XP_011516443.1:p.Ala577Pro
XM_011518142.2:c.1633G>C	XP_011516444.1:p.Ala545Pro
XM_011518143.2:c.1627G>C	XP_011516445.1:p.Ala543Pro
XM_011518145.2:c.1486G>C	XP_011516447.1:p.Ala496Pro
XM_017014205.2:c.745G>C	XP_016869694.1:p.Ala249Pro
XM_024447380.1:c.745G>C	XP_024303148.1:p.Ala249Pro
XM_024447381.1:c.1051G>C	XP_024303149.1:p.Ala351Pro
XM_024447382.1:c.745G>C	XP_024303150.1:p.Ala249Pro
XR_001746160.2:n.2046G>C
XR_001746162.2:n.2251G>C
XR_001746164.1:n.1968G>C
XR_001746166.2:n.2263G>C
NM_001077365.2:c.1876G>C MANE Select	NP_001070833.1:p.Ala626Pro
NM_001077366.2:c.1714G>C	NP_001070834.1:p.Ala572Pro
NM_001136113.2:c.1876G>C	NP_001129585.1:p.Ala626Pro
NM_001136114.2:c.1525G>C	NP_001129586.1:p.Ala509Pro
NM_001353193.2:c.1942G>C	NP_001340122.2:p.Ala648Pro
NM_001353194.2:c.1714G>C	NP_001340123.1:p.Ala572Pro
NM_001353195.2:c.1525G>C	NP_001340124.1:p.Ala509Pro
NM_001353196.2:c.1786G>C	NP_001340125.1:p.Ala596Pro
NM_001353197.2:c.1780G>C	NP_001340126.2:p.Ala594Pro
NM_001353198.2:c.1780G>C	NP_001340127.2:p.Ala594Pro
NM_001353199.2:c.1591G>C	NP_001340128.2:p.Ala531Pro
NM_001353200.2:c.1420G>C	NP_001340129.1:p.Ala474Pro
NM_001374689.1:c.1864G>C	NP_001361618.1:p.Ala622Pro
NM_001374690.1:c.1657G>C	NP_001361619.1:p.Ala553Pro
NM_001374691.1:c.1525G>C	NP_001361620.1:p.Ala509Pro
NM_001374692.1:c.1525G>C	NP_001361621.1:p.Ala509Pro
NM_001374693.1:c.1525G>C	NP_001361622.1:p.Ala509Pro
NM_001374695.1:c.1486G>C	NP_001361624.1:p.Ala496Pro
NM_007171.4:c.1942G>C	NP_009102.4:p.Ala648Pro
NR_148391.2:n.1910G>C
NR_148392.2:n.2128G>C
NR_148393.2:n.2049G>C
NR_148394.2:n.1803G>C
NR_148395.2:n.2201G>C
NR_148396.2:n.1835G>C
NR_148397.2:n.1960G>C
NR_148398.2:n.1915G>C
NR_148399.2:n.2441G>C
NR_148400.2:n.2040G>C