Canonical Allele Identifier: CA375313988

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396846T>A (hg19) ; chr9:g.131521459T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521459T>A , CM000671.2:g.131521459T>A	GRCh38
NC_000009.11:g.134396846T>A , CM000671.1:g.134396846T>A	GRCh37
NC_000009.10:g.133386667T>A	NCBI36
NG_008896.1:g.23558T>A
NG_008896.2:g.23558T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1650T>A	ENSP00000343034.7:p.His550Gln
ENST00000404875.7:n.2352T>A
ENST00000423007.6:c.1869T>A	ENSP00000404119.2:p.His623Gln
ENST00000677295.2:c.*2156T>A	ENSP00000504346.2:n.*2156T>A
ENST00000678264.2:c.*1995T>A	ENSP00000503157.2:n.*1995T>A
ENST00000682070.1:n.2277T>A
ENST00000682813.1:n.2216T>A
ENST00000683392.1:n.4559T>A
ENST00000683712.1:n.2217T>A
ENST00000683900.1:n.3712T>A
ENST00000684062.1:n.2478T>A
ENST00000684579.1:n.3658T>A
ENST00000684679.1:n.1039T>A
ENST00000341012.12:c.1650T>A	ENSP00000343034.7:p.His550Gln
ENST00000372220.5:c.681T>A	ENSP00000361294.5:p.His227Gln
ENST00000372228.9:c.1878T>A	ENSP00000361302.3:p.His626Gln
ENST00000402686.8:c.1812T>A MANE Select	ENSP00000385797.4:p.His604Gln
ENST00000676640.1:c.1812T>A	ENSP00000503281.1:p.His604Gln
ENST00000676803.1:c.873T>A	ENSP00000503093.1:p.His291Gln
ENST00000676835.1:c.*1027T>A	ENSP00000502911.1:n.*1027T>A
ENST00000677029.1:c.1356T>A	ENSP00000502936.1:p.His452Gln
ENST00000677099.1:c.*1522T>A	ENSP00000504553.1:n.*1522T>A
ENST00000677216.1:c.1461T>A	ENSP00000503772.1:p.His487Gln
ENST00000677221.1:n.837T>A
ENST00000677295.1:c.*1189T>A	ENSP00000504346.1:n.*1189T>A
ENST00000677444.1:c.1757T>A
ENST00000677586.1:n.1179T>A
ENST00000677626.1:c.1461T>A	ENSP00000503552.1:p.His487Gln
ENST00000677853.1:c.*820T>A	ENSP00000503488.1:n.*820T>A
ENST00000678202.1:n.971T>A
ENST00000678264.1:c.*1189T>A	ENSP00000503157.1:n.*1189T>A
ENST00000678303.1:c.1722T>A	ENSP00000503696.1:p.His574Gln
ENST00000678366.1:c.*2061T>A	ENSP00000504353.1:n.*2061T>A
ENST00000678546.1:c.*1757T>A	ENSP00000503062.1:n.*1757T>A
ENST00000678548.1:c.*1884T>A	ENSP00000503934.1:n.*1884T>A
ENST00000678626.1:n.1648T>A
ENST00000678739.1:c.*2133T>A	ENSP00000503806.1:n.*2133T>A
ENST00000678833.1:c.*1564T>A	ENSP00000503893.1:n.*1564T>A
ENST00000679023.1:c.1650T>A	ENSP00000503718.1:p.His550Gln
ENST00000679076.1:c.1431T>A
ENST00000679111.1:c.*568T>A	ENSP00000504257.1:n.*568T>A
ENST00000679189.1:c.1461T>A	ENSP00000503356.1:p.His487Gln
ENST00000341012.11:c.1650T>A	ENSP00000343034.7:p.His550Gln
ENST00000372220.4:c.675T>A	ENSP00000361294.4:p.His225Gln
ENST00000372228.7:c.1878T>A	ENSP00000361302.3:p.His626Gln
ENST00000402686.7:c.1812T>A	ENSP00000385797.3:p.His604Gln
ENST00000404875.6:c.1461T>A	ENSP00000384531.2:p.His487Gln
ENST00000423007.5:c.1812T>A	ENSP00000404119.1:p.His604Gln
ENST00000485278.5:n.2362T>A
ENST00000494883.1:n.355T>A
NM_001077365.1:c.1812T>A	NP_001070833.1:p.His604Gln
NM_001077366.1:c.1650T>A	NP_001070834.1:p.His550Gln
NM_001136113.1:c.1812T>A	NP_001129585.1:p.His604Gln
NM_001136114.1:c.1461T>A	NP_001129586.1:p.His487Gln
NM_007171.3:c.1878T>A	NP_009102.3:p.His626Gln
XM_005272156.1:c.1878T>A	XP_005272213.1:p.His626Gln
XM_005272158.1:c.1716T>A	XP_005272215.1:p.His572Gln
XM_005272159.1:c.1527T>A	XP_005272216.1:p.His509Gln
XM_005272162.1:c.681T>A	XP_005272219.1:p.His227Gln
XM_006716932.1:c.1527T>A	XP_006716995.1:p.His509Gln
XM_011518140.1:c.1731T>A	XP_011516442.1:p.His577Gln
XM_011518141.1:c.1665T>A	XP_011516443.1:p.His555Gln
XM_011518142.1:c.1569T>A	XP_011516444.1:p.His523Gln
XM_011518143.1:c.1563T>A	XP_011516445.1:p.His521Gln
XM_011518145.1:c.1422T>A	XP_011516447.1:p.His474Gln
XM_011518147.1:c.750T>A	XP_011516449.1:p.His250Gln
XR_929703.1:n.2054T>A
NM_001353193.1:c.1878T>A	NP_001340122.1:p.His626Gln
NM_001353194.1:c.1650T>A	NP_001340123.1:p.His550Gln
NM_001353195.1:c.1461T>A	NP_001340124.1:p.His487Gln
NM_001353196.1:c.1722T>A	NP_001340125.1:p.His574Gln
NM_001353197.1:c.1716T>A	NP_001340126.1:p.His572Gln
NM_001353198.1:c.1716T>A	NP_001340127.1:p.His572Gln
NM_001353199.1:c.1527T>A	NP_001340128.1:p.His509Gln
NM_001353200.1:c.1356T>A	NP_001340129.1:p.His452Gln
NR_148391.1:n.1862T>A
NR_148392.1:n.2080T>A
NR_148393.1:n.2001T>A
NR_148394.1:n.1755T>A
NR_148395.1:n.2153T>A
NR_148396.1:n.1787T>A
NR_148397.1:n.1912T>A
NR_148398.1:n.1867T>A
NR_148399.1:n.2393T>A
NR_148400.1:n.1992T>A
XM_005272162.3:c.681T>A	XP_005272219.1:p.His227Gln
XM_006716932.2:c.1527T>A	XP_006716995.1:p.His509Gln
XM_011518140.2:c.1731T>A	XP_011516442.1:p.His577Gln
XM_011518141.2:c.1665T>A	XP_011516443.1:p.His555Gln
XM_011518142.2:c.1569T>A	XP_011516444.1:p.His523Gln
XM_011518143.2:c.1563T>A	XP_011516445.1:p.His521Gln
XM_011518145.2:c.1422T>A	XP_011516447.1:p.His474Gln
XM_017014205.2:c.681T>A	XP_016869694.1:p.His227Gln
XM_024447380.1:c.681T>A	XP_024303148.1:p.His227Gln
XM_024447381.1:c.987T>A	XP_024303149.1:p.His329Gln
XM_024447382.1:c.681T>A	XP_024303150.1:p.His227Gln
XR_001746160.2:n.1982T>A
XR_001746162.2:n.2187T>A
XR_001746164.1:n.1904T>A
XR_001746166.2:n.2199T>A
NM_001077365.2:c.1812T>A MANE Select	NP_001070833.1:p.His604Gln
NM_001077366.2:c.1650T>A	NP_001070834.1:p.His550Gln
NM_001136113.2:c.1812T>A	NP_001129585.1:p.His604Gln
NM_001136114.2:c.1461T>A	NP_001129586.1:p.His487Gln
NM_001353193.2:c.1878T>A	NP_001340122.2:p.His626Gln
NM_001353194.2:c.1650T>A	NP_001340123.1:p.His550Gln
NM_001353195.2:c.1461T>A	NP_001340124.1:p.His487Gln
NM_001353196.2:c.1722T>A	NP_001340125.1:p.His574Gln
NM_001353197.2:c.1716T>A	NP_001340126.2:p.His572Gln
NM_001353198.2:c.1716T>A	NP_001340127.2:p.His572Gln
NM_001353199.2:c.1527T>A	NP_001340128.2:p.His509Gln
NM_001353200.2:c.1356T>A	NP_001340129.1:p.His452Gln
NM_001374689.1:c.1800T>A	NP_001361618.1:p.His600Gln
NM_001374690.1:c.1593T>A	NP_001361619.1:p.His531Gln
NM_001374691.1:c.1461T>A	NP_001361620.1:p.His487Gln
NM_001374692.1:c.1461T>A	NP_001361621.1:p.His487Gln
NM_001374693.1:c.1461T>A	NP_001361622.1:p.His487Gln
NM_001374695.1:c.1422T>A	NP_001361624.1:p.His474Gln
NM_007171.4:c.1878T>A	NP_009102.4:p.His626Gln
NR_148391.2:n.1846T>A
NR_148392.2:n.2064T>A
NR_148393.2:n.1985T>A
NR_148394.2:n.1739T>A
NR_148395.2:n.2137T>A
NR_148396.2:n.1771T>A
NR_148397.2:n.1896T>A
NR_148398.2:n.1851T>A
NR_148399.2:n.2377T>A
NR_148400.2:n.1976T>A