Canonical Allele Identifier: CA375314117

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397440G>A (hg19) ; chr9:g.131522053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522053G>A , CM000671.2:g.131522053G>A	GRCh38
NC_000009.11:g.134397440G>A , CM000671.1:g.134397440G>A	GRCh37
NC_000009.10:g.133387261G>A	NCBI36
NG_008896.1:g.24152G>A
NG_008896.2:g.24152G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1670G>A	ENSP00000343034.7:p.Trp557Ter
ENST00000404875.7:n.2372G>A
ENST00000423007.6:c.1889G>A	ENSP00000404119.2:p.Trp630Ter
ENST00000677295.2:c.*2176G>A	ENSP00000504346.2:n.*2176G>A
ENST00000678264.2:c.*2015G>A	ENSP00000503157.2:n.*2015G>A
ENST00000682070.1:n.2291-149G>A
ENST00000682813.1:n.2236G>A
ENST00000683392.1:n.4573-149G>A
ENST00000683712.1:n.2237G>A
ENST00000683900.1:n.3732G>A
ENST00000684062.1:n.2498G>A
ENST00000684579.1:n.3678G>A
ENST00000684679.1:n.1059G>A
ENST00000341012.12:c.1670G>A	ENSP00000343034.7:p.Trp557Ter
ENST00000372220.5:c.701G>A	ENSP00000361294.5:p.Trp234Ter
ENST00000372228.9:c.1898G>A	ENSP00000361302.3:p.Trp633Ter
ENST00000402686.8:c.1832G>A MANE Select	ENSP00000385797.4:p.Trp611Ter
ENST00000676640.1:c.1832G>A	ENSP00000503281.1:p.Trp611Ter
ENST00000676803.1:c.893G>A	ENSP00000503093.1:p.Trp298Ter
ENST00000676835.1:c.*1047G>A	ENSP00000502911.1:n.*1047G>A
ENST00000677029.1:c.1376G>A	ENSP00000502936.1:p.Trp459Ter
ENST00000677099.1:c.*1542G>A	ENSP00000504553.1:n.*1542G>A
ENST00000677216.1:c.1481G>A	ENSP00000503772.1:p.Trp494Ter
ENST00000677221.1:n.857G>A
ENST00000677295.1:c.*1203-149G>A	ENSP00000504346.1:n.*1203-149G>A
ENST00000677444.1:c.1777G>A
ENST00000677586.1:n.1199G>A
ENST00000677626.1:c.1481G>A	ENSP00000503552.1:p.Trp494Ter
ENST00000677853.1:c.*840G>A	ENSP00000503488.1:n.*840G>A
ENST00000678202.1:n.991G>A
ENST00000678264.1:c.*1209G>A	ENSP00000503157.1:n.*1209G>A
ENST00000678303.1:c.1742G>A	ENSP00000503696.1:p.Trp581Ter
ENST00000678366.1:c.*2081G>A	ENSP00000504353.1:n.*2081G>A
ENST00000678546.1:c.*1777G>A	ENSP00000503062.1:n.*1777G>A
ENST00000678548.1:c.*1971G>A	ENSP00000503934.1:n.*1971G>A
ENST00000678626.1:n.1668G>A
ENST00000678739.1:c.*2147-149G>A	ENSP00000503806.1:n.*2147-149G>A
ENST00000678833.1:c.*1584G>A	ENSP00000503893.1:n.*1584G>A
ENST00000679023.1:c.1670G>A	ENSP00000503718.1:p.Trp557Ter
ENST00000679076.1:c.1451G>A
ENST00000679111.1:c.*588G>A	ENSP00000504257.1:n.*588G>A
ENST00000679189.1:c.1481G>A	ENSP00000503356.1:p.Trp494Ter
ENST00000341012.11:c.1670G>A	ENSP00000343034.7:p.Trp557Ter
ENST00000372220.4:c.695G>A	ENSP00000361294.4:p.Trp232Ter
ENST00000372228.7:c.1898G>A	ENSP00000361302.3:p.Trp633Ter
ENST00000402686.7:c.1832G>A	ENSP00000385797.3:p.Trp611Ter
ENST00000404875.6:c.1481G>A	ENSP00000384531.2:p.Trp494Ter
ENST00000423007.5:c.1832G>A	ENSP00000404119.1:p.Trp611Ter
ENST00000485278.5:n.2382G>A
ENST00000494883.1:n.375G>A
NM_001077365.1:c.1832G>A	NP_001070833.1:p.Trp611Ter
NM_001077366.1:c.1670G>A	NP_001070834.1:p.Trp557Ter
NM_001136113.1:c.1832G>A	NP_001129585.1:p.Trp611Ter
NM_001136114.1:c.1481G>A	NP_001129586.1:p.Trp494Ter
NM_007171.3:c.1898G>A	NP_009102.3:p.Trp633Ter
XM_005272156.1:c.1898G>A	XP_005272213.1:p.Trp633Ter
XM_005272158.1:c.1736G>A	XP_005272215.1:p.Trp579Ter
XM_005272159.1:c.1547G>A	XP_005272216.1:p.Trp516Ter
XM_005272162.1:c.701G>A	XP_005272219.1:p.Trp234Ter
XM_006716932.1:c.1547G>A	XP_006716995.1:p.Trp516Ter
XM_011518140.1:c.1751G>A	XP_011516442.1:p.Trp584Ter
XM_011518141.1:c.1685G>A	XP_011516443.1:p.Trp562Ter
XM_011518142.1:c.1589G>A	XP_011516444.1:p.Trp530Ter
XM_011518143.1:c.1583G>A	XP_011516445.1:p.Trp528Ter
XM_011518145.1:c.1442G>A	XP_011516447.1:p.Trp481Ter
XM_011518147.1:c.770G>A	XP_011516449.1:p.Trp257Ter
XR_929703.1:n.2074G>A
NM_001353193.1:c.1898G>A	NP_001340122.1:p.Trp633Ter
NM_001353194.1:c.1670G>A	NP_001340123.1:p.Trp557Ter
NM_001353195.1:c.1481G>A	NP_001340124.1:p.Trp494Ter
NM_001353196.1:c.1742G>A	NP_001340125.1:p.Trp581Ter
NM_001353197.1:c.1736G>A	NP_001340126.1:p.Trp579Ter
NM_001353198.1:c.1736G>A	NP_001340127.1:p.Trp579Ter
NM_001353199.1:c.1547G>A	NP_001340128.1:p.Trp516Ter
NM_001353200.1:c.1376G>A	NP_001340129.1:p.Trp459Ter
NR_148391.1:n.1882G>A
NR_148392.1:n.2100G>A
NR_148393.1:n.2021G>A
NR_148394.1:n.1775G>A
NR_148395.1:n.2173G>A
NR_148396.1:n.1807G>A
NR_148397.1:n.1932G>A
NR_148398.1:n.1887G>A
NR_148399.1:n.2413G>A
NR_148400.1:n.2012G>A
XM_005272162.3:c.701G>A	XP_005272219.1:p.Trp234Ter
XM_006716932.2:c.1547G>A	XP_006716995.1:p.Trp516Ter
XM_011518140.2:c.1751G>A	XP_011516442.1:p.Trp584Ter
XM_011518141.2:c.1685G>A	XP_011516443.1:p.Trp562Ter
XM_011518142.2:c.1589G>A	XP_011516444.1:p.Trp530Ter
XM_011518143.2:c.1583G>A	XP_011516445.1:p.Trp528Ter
XM_011518145.2:c.1442G>A	XP_011516447.1:p.Trp481Ter
XM_017014205.2:c.701G>A	XP_016869694.1:p.Trp234Ter
XM_024447380.1:c.701G>A	XP_024303148.1:p.Trp234Ter
XM_024447381.1:c.1007G>A	XP_024303149.1:p.Trp336Ter
XM_024447382.1:c.701G>A	XP_024303150.1:p.Trp234Ter
XR_001746160.2:n.2002G>A
XR_001746162.2:n.2207G>A
XR_001746164.1:n.1924G>A
XR_001746166.2:n.2219G>A
NM_001077365.2:c.1832G>A MANE Select	NP_001070833.1:p.Trp611Ter
NM_001077366.2:c.1670G>A	NP_001070834.1:p.Trp557Ter
NM_001136113.2:c.1832G>A	NP_001129585.1:p.Trp611Ter
NM_001136114.2:c.1481G>A	NP_001129586.1:p.Trp494Ter
NM_001353193.2:c.1898G>A	NP_001340122.2:p.Trp633Ter
NM_001353194.2:c.1670G>A	NP_001340123.1:p.Trp557Ter
NM_001353195.2:c.1481G>A	NP_001340124.1:p.Trp494Ter
NM_001353196.2:c.1742G>A	NP_001340125.1:p.Trp581Ter
NM_001353197.2:c.1736G>A	NP_001340126.2:p.Trp579Ter
NM_001353198.2:c.1736G>A	NP_001340127.2:p.Trp579Ter
NM_001353199.2:c.1547G>A	NP_001340128.2:p.Trp516Ter
NM_001353200.2:c.1376G>A	NP_001340129.1:p.Trp459Ter
NM_001374689.1:c.1820G>A	NP_001361618.1:p.Trp607Ter
NM_001374690.1:c.1613G>A	NP_001361619.1:p.Trp538Ter
NM_001374691.1:c.1481G>A	NP_001361620.1:p.Trp494Ter
NM_001374692.1:c.1481G>A	NP_001361621.1:p.Trp494Ter
NM_001374693.1:c.1481G>A	NP_001361622.1:p.Trp494Ter
NM_001374695.1:c.1442G>A	NP_001361624.1:p.Trp481Ter
NM_007171.4:c.1898G>A	NP_009102.4:p.Trp633Ter
NR_148391.2:n.1866G>A
NR_148392.2:n.2084G>A
NR_148393.2:n.2005G>A
NR_148394.2:n.1759G>A
NR_148395.2:n.2157G>A
NR_148396.2:n.1791G>A
NR_148397.2:n.1916G>A
NR_148398.2:n.1871G>A
NR_148399.2:n.2397G>A
NR_148400.2:n.1996G>A