Canonical Allele Identifier: CA467424217

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398436T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523049T>C , CM000671.2:g.131523049T>C	GRCh38
NC_000009.11:g.134398436T>C , CM000671.1:g.134398436T>C	GRCh37
NC_000009.10:g.133388257T>C	NCBI36
NG_008896.1:g.25148T>C
NG_008896.2:g.25148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1959T>C	ENSP00000343034.7:p.His653=
ENST00000404875.7:n.2661T>C
ENST00000423007.6:c.2178T>C	ENSP00000404119.2:p.His726=
ENST00000677295.2:c.*2465T>C	ENSP00000504346.2:n.*2465T>C
ENST00000678264.2:c.*2304T>C	ENSP00000503157.2:n.*2304T>C
ENST00000682070.1:n.2431T>C
ENST00000682639.1:c.118T>C
ENST00000682813.1:n.2518T>C
ENST00000683231.1:c.118T>C
ENST00000683392.1:n.4713T>C
ENST00000683712.1:n.2526T>C
ENST00000683900.1:n.4021T>C
ENST00000684062.1:n.2787T>C
ENST00000684399.1:c.118T>C
ENST00000684579.1:n.3967T>C
ENST00000341012.12:c.1959T>C	ENSP00000343034.7:p.His653=
ENST00000372220.5:c.990T>C	ENSP00000361294.5:p.His330=
ENST00000372228.9:c.2187T>C	ENSP00000361302.3:p.His729=
ENST00000402686.8:c.2121T>C MANE Select	ENSP00000385797.4:p.His707=
ENST00000676640.1:c.2121T>C	ENSP00000503281.1:p.His707=
ENST00000676803.1:c.1182T>C	ENSP00000503093.1:p.His394=
ENST00000676835.1:c.*1336T>C	ENSP00000502911.1:n.*1336T>C
ENST00000677029.1:c.1665T>C	ENSP00000502936.1:p.His555=
ENST00000677099.1:c.*1831T>C	ENSP00000504553.1:n.*1831T>C
ENST00000677216.1:c.1770T>C	ENSP00000503772.1:p.His590=
ENST00000677295.1:c.*1343T>C	ENSP00000504346.1:n.*1343T>C
ENST00000677444.1:c.2066T>C
ENST00000677586.1:n.1488T>C
ENST00000677626.1:c.1770T>C	ENSP00000503552.1:p.His590=
ENST00000677853.1:c.*1129T>C	ENSP00000503488.1:n.*1129T>C
ENST00000678264.1:c.*1498T>C	ENSP00000503157.1:n.*1498T>C
ENST00000678303.1:c.2031T>C	ENSP00000503696.1:p.His677=
ENST00000678366.1:c.*2370T>C	ENSP00000504353.1:n.*2370T>C
ENST00000678546.1:c.*2066T>C	ENSP00000503062.1:n.*2066T>C
ENST00000678548.1:c.*2260T>C	ENSP00000503934.1:n.*2260T>C
ENST00000678626.1:n.1957T>C
ENST00000678739.1:c.*2287T>C	ENSP00000503806.1:n.*2287T>C
ENST00000678833.1:c.*1873T>C	ENSP00000503893.1:n.*1873T>C
ENST00000679023.1:c.1959T>C	ENSP00000503718.1:p.His653=
ENST00000679076.1:c.1740T>C
ENST00000679111.1:c.*877T>C	ENSP00000504257.1:n.*877T>C
ENST00000679189.1:c.1770T>C	ENSP00000503356.1:p.His590=
ENST00000341012.11:c.1959T>C	ENSP00000343034.7:p.His653=
ENST00000372220.4:c.984T>C	ENSP00000361294.4:p.His328=
ENST00000372228.7:c.2187T>C	ENSP00000361302.3:p.His729=
ENST00000402686.7:c.2121T>C	ENSP00000385797.3:p.His707=
ENST00000404875.6:c.1770T>C	ENSP00000384531.2:p.His590=
ENST00000423007.5:c.2121T>C	ENSP00000404119.1:p.His707=
ENST00000485278.5:n.2671T>C
NM_001077365.1:c.2121T>C	NP_001070833.1:p.His707=
NM_001077366.1:c.1959T>C	NP_001070834.1:p.His653=
NM_001136113.1:c.2121T>C	NP_001129585.1:p.His707=
NM_001136114.1:c.1770T>C	NP_001129586.1:p.His590=
NM_007171.3:c.2187T>C	NP_009102.3:p.His729=
XM_005272156.1:c.2187T>C	XP_005272213.1:p.His729=
XM_005272158.1:c.2025T>C	XP_005272215.1:p.His675=
XM_005272159.1:c.1836T>C	XP_005272216.1:p.His612=
XM_005272162.1:c.990T>C	XP_005272219.1:p.His330=
XM_006716932.1:c.1836T>C	XP_006716995.1:p.His612=
XM_011518140.1:c.2040T>C	XP_011516442.1:p.His680=
XM_011518141.1:c.1974T>C	XP_011516443.1:p.His658=
XM_011518142.1:c.1878T>C	XP_011516444.1:p.His626=
XM_011518143.1:c.1872T>C	XP_011516445.1:p.His624=
XM_011518145.1:c.1731T>C	XP_011516447.1:p.His577=
XM_011518147.1:c.1059T>C	XP_011516449.1:p.His353=
XR_929703.1:n.2363T>C
NM_001353193.1:c.2187T>C	NP_001340122.1:p.His729=
NM_001353194.1:c.1959T>C	NP_001340123.1:p.His653=
NM_001353195.1:c.1770T>C	NP_001340124.1:p.His590=
NM_001353196.1:c.2031T>C	NP_001340125.1:p.His677=
NM_001353197.1:c.2025T>C	NP_001340126.1:p.His675=
NM_001353198.1:c.2025T>C	NP_001340127.1:p.His675=
NM_001353199.1:c.1836T>C	NP_001340128.1:p.His612=
NM_001353200.1:c.1665T>C	NP_001340129.1:p.His555=
NR_148391.1:n.2171T>C
NR_148392.1:n.2389T>C
NR_148393.1:n.2310T>C
NR_148394.1:n.2064T>C
NR_148395.1:n.2462T>C
NR_148396.1:n.2096T>C
NR_148397.1:n.2221T>C
NR_148398.1:n.2176T>C
NR_148399.1:n.2702T>C
NR_148400.1:n.2301T>C
XM_005272162.3:c.990T>C	XP_005272219.1:p.His330=
XM_006716932.2:c.1836T>C	XP_006716995.1:p.His612=
XM_011518140.2:c.2040T>C	XP_011516442.1:p.His680=
XM_011518141.2:c.1974T>C	XP_011516443.1:p.His658=
XM_011518142.2:c.1878T>C	XP_011516444.1:p.His626=
XM_011518143.2:c.1872T>C	XP_011516445.1:p.His624=
XM_011518145.2:c.1731T>C	XP_011516447.1:p.His577=
XM_017014205.2:c.990T>C	XP_016869694.1:p.His330=
XM_024447380.1:c.990T>C	XP_024303148.1:p.His330=
XM_024447381.1:c.1296T>C	XP_024303149.1:p.His432=
XM_024447382.1:c.990T>C	XP_024303150.1:p.His330=
XR_001746160.2:n.2291T>C
XR_001746162.2:n.2496T>C
XR_001746164.1:n.2213T>C
XR_001746166.2:n.2508T>C
NM_001077365.2:c.2121T>C MANE Select	NP_001070833.1:p.His707=
NM_001077366.2:c.1959T>C	NP_001070834.1:p.His653=
NM_001136113.2:c.2121T>C	NP_001129585.1:p.His707=
NM_001136114.2:c.1770T>C	NP_001129586.1:p.His590=
NM_001353193.2:c.2187T>C	NP_001340122.2:p.His729=
NM_001353194.2:c.1959T>C	NP_001340123.1:p.His653=
NM_001353195.2:c.1770T>C	NP_001340124.1:p.His590=
NM_001353196.2:c.2031T>C	NP_001340125.1:p.His677=
NM_001353197.2:c.2025T>C	NP_001340126.2:p.His675=
NM_001353198.2:c.2025T>C	NP_001340127.2:p.His675=
NM_001353199.2:c.1836T>C	NP_001340128.2:p.His612=
NM_001353200.2:c.1665T>C	NP_001340129.1:p.His555=
NM_001374689.1:c.2109T>C	NP_001361618.1:p.His703=
NM_001374690.1:c.1902T>C	NP_001361619.1:p.His634=
NM_001374691.1:c.1770T>C	NP_001361620.1:p.His590=
NM_001374692.1:c.1770T>C	NP_001361621.1:p.His590=
NM_001374693.1:c.1770T>C	NP_001361622.1:p.His590=
NM_001374695.1:c.1731T>C	NP_001361624.1:p.His577=
NM_007171.4:c.2187T>C	NP_009102.4:p.His729=
NR_148391.2:n.2155T>C
NR_148392.2:n.2373T>C
NR_148393.2:n.2294T>C
NR_148394.2:n.2048T>C
NR_148395.2:n.2446T>C
NR_148396.2:n.2080T>C
NR_148397.2:n.2205T>C
NR_148398.2:n.2160T>C
NR_148399.2:n.2686T>C
NR_148400.2:n.2285T>C