Canonical Allele Identifier: CA375315039

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398360C>G (hg19) ; chr9:g.131522973C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522973C>G , CM000671.2:g.131522973C>G	GRCh38
NC_000009.11:g.134398360C>G , CM000671.1:g.134398360C>G	GRCh37
NC_000009.10:g.133388181C>G	NCBI36
NG_008896.1:g.25072C>G
NG_008896.2:g.25072C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1883C>G	ENSP00000343034.7:p.Ala628Gly
ENST00000404875.7:n.2585C>G
ENST00000423007.6:c.2102C>G	ENSP00000404119.2:p.Ala701Gly
ENST00000677295.2:c.*2389C>G	ENSP00000504346.2:n.*2389C>G
ENST00000678264.2:c.*2228C>G	ENSP00000503157.2:n.*2228C>G
ENST00000682070.1:n.2355C>G
ENST00000682639.1:c.42C>G
ENST00000682813.1:n.2442C>G
ENST00000683231.1:c.42C>G
ENST00000683392.1:n.4637C>G
ENST00000683712.1:n.2450C>G
ENST00000683900.1:n.3945C>G
ENST00000684062.1:n.2711C>G
ENST00000684399.1:c.42C>G
ENST00000684579.1:n.3891C>G
ENST00000341012.12:c.1883C>G	ENSP00000343034.7:p.Ala628Gly
ENST00000372220.5:c.914C>G	ENSP00000361294.5:p.Ala305Gly
ENST00000372228.9:c.2111C>G	ENSP00000361302.3:p.Ala704Gly
ENST00000402686.8:c.2045C>G MANE Select	ENSP00000385797.4:p.Ala682Gly
ENST00000676640.1:c.2045C>G	ENSP00000503281.1:p.Ala682Gly
ENST00000676803.1:c.1106C>G	ENSP00000503093.1:p.Ala369Gly
ENST00000676835.1:c.*1260C>G	ENSP00000502911.1:n.*1260C>G
ENST00000677029.1:c.1589C>G	ENSP00000502936.1:p.Ala530Gly
ENST00000677099.1:c.*1755C>G	ENSP00000504553.1:n.*1755C>G
ENST00000677216.1:c.1694C>G	ENSP00000503772.1:p.Ala565Gly
ENST00000677221.1:n.1070C>G
ENST00000677295.1:c.*1267C>G	ENSP00000504346.1:n.*1267C>G
ENST00000677444.1:c.1990C>G
ENST00000677586.1:n.1412C>G
ENST00000677626.1:c.1694C>G	ENSP00000503552.1:p.Ala565Gly
ENST00000677853.1:c.*1053C>G	ENSP00000503488.1:n.*1053C>G
ENST00000678264.1:c.*1422C>G	ENSP00000503157.1:n.*1422C>G
ENST00000678303.1:c.1955C>G	ENSP00000503696.1:p.Ala652Gly
ENST00000678366.1:c.*2294C>G	ENSP00000504353.1:n.*2294C>G
ENST00000678546.1:c.*1990C>G	ENSP00000503062.1:n.*1990C>G
ENST00000678548.1:c.*2184C>G	ENSP00000503934.1:n.*2184C>G
ENST00000678626.1:n.1881C>G
ENST00000678739.1:c.*2211C>G	ENSP00000503806.1:n.*2211C>G
ENST00000678833.1:c.*1797C>G	ENSP00000503893.1:n.*1797C>G
ENST00000679023.1:c.1883C>G	ENSP00000503718.1:p.Ala628Gly
ENST00000679076.1:c.1664C>G
ENST00000679111.1:c.*801C>G	ENSP00000504257.1:n.*801C>G
ENST00000679189.1:c.1694C>G	ENSP00000503356.1:p.Ala565Gly
ENST00000341012.11:c.1883C>G	ENSP00000343034.7:p.Ala628Gly
ENST00000372220.4:c.908C>G	ENSP00000361294.4:p.Ala303Gly
ENST00000372228.7:c.2111C>G	ENSP00000361302.3:p.Ala704Gly
ENST00000402686.7:c.2045C>G	ENSP00000385797.3:p.Ala682Gly
ENST00000404875.6:c.1694C>G	ENSP00000384531.2:p.Ala565Gly
ENST00000423007.5:c.2045C>G	ENSP00000404119.1:p.Ala682Gly
ENST00000485278.5:n.2595C>G
NM_001077365.1:c.2045C>G	NP_001070833.1:p.Ala682Gly
NM_001077366.1:c.1883C>G	NP_001070834.1:p.Ala628Gly
NM_001136113.1:c.2045C>G	NP_001129585.1:p.Ala682Gly
NM_001136114.1:c.1694C>G	NP_001129586.1:p.Ala565Gly
NM_007171.3:c.2111C>G	NP_009102.3:p.Ala704Gly
XM_005272156.1:c.2111C>G	XP_005272213.1:p.Ala704Gly
XM_005272158.1:c.1949C>G	XP_005272215.1:p.Ala650Gly
XM_005272159.1:c.1760C>G	XP_005272216.1:p.Ala587Gly
XM_005272162.1:c.914C>G	XP_005272219.1:p.Ala305Gly
XM_006716932.1:c.1760C>G	XP_006716995.1:p.Ala587Gly
XM_011518140.1:c.1964C>G	XP_011516442.1:p.Ala655Gly
XM_011518141.1:c.1898C>G	XP_011516443.1:p.Ala633Gly
XM_011518142.1:c.1802C>G	XP_011516444.1:p.Ala601Gly
XM_011518143.1:c.1796C>G	XP_011516445.1:p.Ala599Gly
XM_011518145.1:c.1655C>G	XP_011516447.1:p.Ala552Gly
XM_011518147.1:c.983C>G	XP_011516449.1:p.Ala328Gly
XR_929703.1:n.2287C>G
NM_001353193.1:c.2111C>G	NP_001340122.1:p.Ala704Gly
NM_001353194.1:c.1883C>G	NP_001340123.1:p.Ala628Gly
NM_001353195.1:c.1694C>G	NP_001340124.1:p.Ala565Gly
NM_001353196.1:c.1955C>G	NP_001340125.1:p.Ala652Gly
NM_001353197.1:c.1949C>G	NP_001340126.1:p.Ala650Gly
NM_001353198.1:c.1949C>G	NP_001340127.1:p.Ala650Gly
NM_001353199.1:c.1760C>G	NP_001340128.1:p.Ala587Gly
NM_001353200.1:c.1589C>G	NP_001340129.1:p.Ala530Gly
NR_148391.1:n.2095C>G
NR_148392.1:n.2313C>G
NR_148393.1:n.2234C>G
NR_148394.1:n.1988C>G
NR_148395.1:n.2386C>G
NR_148396.1:n.2020C>G
NR_148397.1:n.2145C>G
NR_148398.1:n.2100C>G
NR_148399.1:n.2626C>G
NR_148400.1:n.2225C>G
XM_005272162.3:c.914C>G	XP_005272219.1:p.Ala305Gly
XM_006716932.2:c.1760C>G	XP_006716995.1:p.Ala587Gly
XM_011518140.2:c.1964C>G	XP_011516442.1:p.Ala655Gly
XM_011518141.2:c.1898C>G	XP_011516443.1:p.Ala633Gly
XM_011518142.2:c.1802C>G	XP_011516444.1:p.Ala601Gly
XM_011518143.2:c.1796C>G	XP_011516445.1:p.Ala599Gly
XM_011518145.2:c.1655C>G	XP_011516447.1:p.Ala552Gly
XM_017014205.2:c.914C>G	XP_016869694.1:p.Ala305Gly
XM_024447380.1:c.914C>G	XP_024303148.1:p.Ala305Gly
XM_024447381.1:c.1220C>G	XP_024303149.1:p.Ala407Gly
XM_024447382.1:c.914C>G	XP_024303150.1:p.Ala305Gly
XR_001746160.2:n.2215C>G
XR_001746162.2:n.2420C>G
XR_001746164.1:n.2137C>G
XR_001746166.2:n.2432C>G
NM_001077365.2:c.2045C>G MANE Select	NP_001070833.1:p.Ala682Gly
NM_001077366.2:c.1883C>G	NP_001070834.1:p.Ala628Gly
NM_001136113.2:c.2045C>G	NP_001129585.1:p.Ala682Gly
NM_001136114.2:c.1694C>G	NP_001129586.1:p.Ala565Gly
NM_001353193.2:c.2111C>G	NP_001340122.2:p.Ala704Gly
NM_001353194.2:c.1883C>G	NP_001340123.1:p.Ala628Gly
NM_001353195.2:c.1694C>G	NP_001340124.1:p.Ala565Gly
NM_001353196.2:c.1955C>G	NP_001340125.1:p.Ala652Gly
NM_001353197.2:c.1949C>G	NP_001340126.2:p.Ala650Gly
NM_001353198.2:c.1949C>G	NP_001340127.2:p.Ala650Gly
NM_001353199.2:c.1760C>G	NP_001340128.2:p.Ala587Gly
NM_001353200.2:c.1589C>G	NP_001340129.1:p.Ala530Gly
NM_001374689.1:c.2033C>G	NP_001361618.1:p.Ala678Gly
NM_001374690.1:c.1826C>G	NP_001361619.1:p.Ala609Gly
NM_001374691.1:c.1694C>G	NP_001361620.1:p.Ala565Gly
NM_001374692.1:c.1694C>G	NP_001361621.1:p.Ala565Gly
NM_001374693.1:c.1694C>G	NP_001361622.1:p.Ala565Gly
NM_001374695.1:c.1655C>G	NP_001361624.1:p.Ala552Gly
NM_007171.4:c.2111C>G	NP_009102.4:p.Ala704Gly
NR_148391.2:n.2079C>G
NR_148392.2:n.2297C>G
NR_148393.2:n.2218C>G
NR_148394.2:n.1972C>G
NR_148395.2:n.2370C>G
NR_148396.2:n.2004C>G
NR_148397.2:n.2129C>G
NR_148398.2:n.2084C>G
NR_148399.2:n.2610C>G
NR_148400.2:n.2209C>G