Canonical Allele Identifier: CA375314249

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397475G>T (hg19) ; chr9:g.131522088G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522088G>T , CM000671.2:g.131522088G>T	GRCh38
NC_000009.11:g.134397475G>T , CM000671.1:g.134397475G>T	GRCh37
NC_000009.10:g.133387296G>T	NCBI36
NG_008896.1:g.24187G>T
NG_008896.2:g.24187G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1705G>T	ENSP00000343034.7:p.Gly569Cys
ENST00000404875.7:n.2407G>T
ENST00000423007.6:c.1924G>T	ENSP00000404119.2:p.Gly642Cys
ENST00000677295.2:c.*2211G>T	ENSP00000504346.2:n.*2211G>T
ENST00000678264.2:c.*2050G>T	ENSP00000503157.2:n.*2050G>T
ENST00000682070.1:n.2291-114G>T
ENST00000682813.1:n.2271G>T
ENST00000683392.1:n.4573-114G>T
ENST00000683712.1:n.2272G>T
ENST00000683900.1:n.3767G>T
ENST00000684062.1:n.2533G>T
ENST00000684579.1:n.3713G>T
ENST00000684679.1:n.1094G>T
ENST00000341012.12:c.1705G>T	ENSP00000343034.7:p.Gly569Cys
ENST00000372220.5:c.736G>T	ENSP00000361294.5:p.Gly246Cys
ENST00000372228.9:c.1933G>T	ENSP00000361302.3:p.Gly645Cys
ENST00000402686.8:c.1867G>T MANE Select	ENSP00000385797.4:p.Gly623Cys
ENST00000676640.1:c.1867G>T	ENSP00000503281.1:p.Gly623Cys
ENST00000676803.1:c.928G>T	ENSP00000503093.1:p.Gly310Cys
ENST00000676835.1:c.*1082G>T	ENSP00000502911.1:n.*1082G>T
ENST00000677029.1:c.1411G>T	ENSP00000502936.1:p.Gly471Cys
ENST00000677099.1:c.*1577G>T	ENSP00000504553.1:n.*1577G>T
ENST00000677216.1:c.1516G>T	ENSP00000503772.1:p.Gly506Cys
ENST00000677221.1:n.892G>T
ENST00000677295.1:c.*1203-114G>T	ENSP00000504346.1:n.*1203-114G>T
ENST00000677444.1:c.1812G>T
ENST00000677586.1:n.1234G>T
ENST00000677626.1:c.1516G>T	ENSP00000503552.1:p.Gly506Cys
ENST00000677853.1:c.*875G>T	ENSP00000503488.1:n.*875G>T
ENST00000678202.1:n.1026G>T
ENST00000678264.1:c.*1244G>T	ENSP00000503157.1:n.*1244G>T
ENST00000678303.1:c.1777G>T	ENSP00000503696.1:p.Gly593Cys
ENST00000678366.1:c.*2116G>T	ENSP00000504353.1:n.*2116G>T
ENST00000678546.1:c.*1812G>T	ENSP00000503062.1:n.*1812G>T
ENST00000678548.1:c.*2006G>T	ENSP00000503934.1:n.*2006G>T
ENST00000678626.1:n.1703G>T
ENST00000678739.1:c.*2147-114G>T	ENSP00000503806.1:n.*2147-114G>T
ENST00000678833.1:c.*1619G>T	ENSP00000503893.1:n.*1619G>T
ENST00000679023.1:c.1705G>T	ENSP00000503718.1:p.Gly569Cys
ENST00000679076.1:c.1486G>T
ENST00000679111.1:c.*623G>T	ENSP00000504257.1:n.*623G>T
ENST00000679189.1:c.1516G>T	ENSP00000503356.1:p.Gly506Cys
ENST00000341012.11:c.1705G>T	ENSP00000343034.7:p.Gly569Cys
ENST00000372220.4:c.730G>T	ENSP00000361294.4:p.Gly244Cys
ENST00000372228.7:c.1933G>T	ENSP00000361302.3:p.Gly645Cys
ENST00000402686.7:c.1867G>T	ENSP00000385797.3:p.Gly623Cys
ENST00000404875.6:c.1516G>T	ENSP00000384531.2:p.Gly506Cys
ENST00000423007.5:c.1867G>T	ENSP00000404119.1:p.Gly623Cys
ENST00000485278.5:n.2417G>T
ENST00000494883.1:n.410G>T
NM_001077365.1:c.1867G>T	NP_001070833.1:p.Gly623Cys
NM_001077366.1:c.1705G>T	NP_001070834.1:p.Gly569Cys
NM_001136113.1:c.1867G>T	NP_001129585.1:p.Gly623Cys
NM_001136114.1:c.1516G>T	NP_001129586.1:p.Gly506Cys
NM_007171.3:c.1933G>T	NP_009102.3:p.Gly645Cys
XM_005272156.1:c.1933G>T	XP_005272213.1:p.Gly645Cys
XM_005272158.1:c.1771G>T	XP_005272215.1:p.Gly591Cys
XM_005272159.1:c.1582G>T	XP_005272216.1:p.Gly528Cys
XM_005272162.1:c.736G>T	XP_005272219.1:p.Gly246Cys
XM_006716932.1:c.1582G>T	XP_006716995.1:p.Gly528Cys
XM_011518140.1:c.1786G>T	XP_011516442.1:p.Gly596Cys
XM_011518141.1:c.1720G>T	XP_011516443.1:p.Gly574Cys
XM_011518142.1:c.1624G>T	XP_011516444.1:p.Gly542Cys
XM_011518143.1:c.1618G>T	XP_011516445.1:p.Gly540Cys
XM_011518145.1:c.1477G>T	XP_011516447.1:p.Gly493Cys
XM_011518147.1:c.805G>T	XP_011516449.1:p.Gly269Cys
XR_929703.1:n.2109G>T
NM_001353193.1:c.1933G>T	NP_001340122.1:p.Gly645Cys
NM_001353194.1:c.1705G>T	NP_001340123.1:p.Gly569Cys
NM_001353195.1:c.1516G>T	NP_001340124.1:p.Gly506Cys
NM_001353196.1:c.1777G>T	NP_001340125.1:p.Gly593Cys
NM_001353197.1:c.1771G>T	NP_001340126.1:p.Gly591Cys
NM_001353198.1:c.1771G>T	NP_001340127.1:p.Gly591Cys
NM_001353199.1:c.1582G>T	NP_001340128.1:p.Gly528Cys
NM_001353200.1:c.1411G>T	NP_001340129.1:p.Gly471Cys
NR_148391.1:n.1917G>T
NR_148392.1:n.2135G>T
NR_148393.1:n.2056G>T
NR_148394.1:n.1810G>T
NR_148395.1:n.2208G>T
NR_148396.1:n.1842G>T
NR_148397.1:n.1967G>T
NR_148398.1:n.1922G>T
NR_148399.1:n.2448G>T
NR_148400.1:n.2047G>T
XM_005272162.3:c.736G>T	XP_005272219.1:p.Gly246Cys
XM_006716932.2:c.1582G>T	XP_006716995.1:p.Gly528Cys
XM_011518140.2:c.1786G>T	XP_011516442.1:p.Gly596Cys
XM_011518141.2:c.1720G>T	XP_011516443.1:p.Gly574Cys
XM_011518142.2:c.1624G>T	XP_011516444.1:p.Gly542Cys
XM_011518143.2:c.1618G>T	XP_011516445.1:p.Gly540Cys
XM_011518145.2:c.1477G>T	XP_011516447.1:p.Gly493Cys
XM_017014205.2:c.736G>T	XP_016869694.1:p.Gly246Cys
XM_024447380.1:c.736G>T	XP_024303148.1:p.Gly246Cys
XM_024447381.1:c.1042G>T	XP_024303149.1:p.Gly348Cys
XM_024447382.1:c.736G>T	XP_024303150.1:p.Gly246Cys
XR_001746160.2:n.2037G>T
XR_001746162.2:n.2242G>T
XR_001746164.1:n.1959G>T
XR_001746166.2:n.2254G>T
NM_001077365.2:c.1867G>T MANE Select	NP_001070833.1:p.Gly623Cys
NM_001077366.2:c.1705G>T	NP_001070834.1:p.Gly569Cys
NM_001136113.2:c.1867G>T	NP_001129585.1:p.Gly623Cys
NM_001136114.2:c.1516G>T	NP_001129586.1:p.Gly506Cys
NM_001353193.2:c.1933G>T	NP_001340122.2:p.Gly645Cys
NM_001353194.2:c.1705G>T	NP_001340123.1:p.Gly569Cys
NM_001353195.2:c.1516G>T	NP_001340124.1:p.Gly506Cys
NM_001353196.2:c.1777G>T	NP_001340125.1:p.Gly593Cys
NM_001353197.2:c.1771G>T	NP_001340126.2:p.Gly591Cys
NM_001353198.2:c.1771G>T	NP_001340127.2:p.Gly591Cys
NM_001353199.2:c.1582G>T	NP_001340128.2:p.Gly528Cys
NM_001353200.2:c.1411G>T	NP_001340129.1:p.Gly471Cys
NM_001374689.1:c.1855G>T	NP_001361618.1:p.Gly619Cys
NM_001374690.1:c.1648G>T	NP_001361619.1:p.Gly550Cys
NM_001374691.1:c.1516G>T	NP_001361620.1:p.Gly506Cys
NM_001374692.1:c.1516G>T	NP_001361621.1:p.Gly506Cys
NM_001374693.1:c.1516G>T	NP_001361622.1:p.Gly506Cys
NM_001374695.1:c.1477G>T	NP_001361624.1:p.Gly493Cys
NM_007171.4:c.1933G>T	NP_009102.4:p.Gly645Cys
NR_148391.2:n.1901G>T
NR_148392.2:n.2119G>T
NR_148393.2:n.2040G>T
NR_148394.2:n.1794G>T
NR_148395.2:n.2192G>T
NR_148396.2:n.1826G>T
NR_148397.2:n.1951G>T
NR_148398.2:n.1906G>T
NR_148399.2:n.2432G>T
NR_148400.2:n.2031G>T