Canonical Allele Identifier: CA375315304

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134398431C>G (hg19) ; chr9:g.131523044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523044C>G , CM000671.2:g.131523044C>G	GRCh38
NC_000009.11:g.134398431C>G , CM000671.1:g.134398431C>G	GRCh37
NC_000009.10:g.133388252C>G	NCBI36
NG_008896.1:g.25143C>G
NG_008896.2:g.25143C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1954C>G	ENSP00000343034.7:p.Pro652Ala
ENST00000404875.7:n.2656C>G
ENST00000423007.6:c.2173C>G	ENSP00000404119.2:p.Pro725Ala
ENST00000677295.2:c.*2460C>G	ENSP00000504346.2:n.*2460C>G
ENST00000678264.2:c.*2299C>G	ENSP00000503157.2:n.*2299C>G
ENST00000682070.1:n.2426C>G
ENST00000682639.1:c.113C>G
ENST00000682813.1:n.2513C>G
ENST00000683231.1:c.113C>G
ENST00000683392.1:n.4708C>G
ENST00000683712.1:n.2521C>G
ENST00000683900.1:n.4016C>G
ENST00000684062.1:n.2782C>G
ENST00000684399.1:c.113C>G
ENST00000684579.1:n.3962C>G
ENST00000341012.12:c.1954C>G	ENSP00000343034.7:p.Pro652Ala
ENST00000372220.5:c.985C>G	ENSP00000361294.5:p.Pro329Ala
ENST00000372228.9:c.2182C>G	ENSP00000361302.3:p.Pro728Ala
ENST00000402686.8:c.2116C>G MANE Select	ENSP00000385797.4:p.Pro706Ala
ENST00000676640.1:c.2116C>G	ENSP00000503281.1:p.Pro706Ala
ENST00000676803.1:c.1177C>G	ENSP00000503093.1:p.Pro393Ala
ENST00000676835.1:c.*1331C>G	ENSP00000502911.1:n.*1331C>G
ENST00000677029.1:c.1660C>G	ENSP00000502936.1:p.Pro554Ala
ENST00000677099.1:c.*1826C>G	ENSP00000504553.1:n.*1826C>G
ENST00000677216.1:c.1765C>G	ENSP00000503772.1:p.Pro589Ala
ENST00000677295.1:c.*1338C>G	ENSP00000504346.1:n.*1338C>G
ENST00000677444.1:c.2061C>G
ENST00000677586.1:n.1483C>G
ENST00000677626.1:c.1765C>G	ENSP00000503552.1:p.Pro589Ala
ENST00000677853.1:c.*1124C>G	ENSP00000503488.1:n.*1124C>G
ENST00000678264.1:c.*1493C>G	ENSP00000503157.1:n.*1493C>G
ENST00000678303.1:c.2026C>G	ENSP00000503696.1:p.Pro676Ala
ENST00000678366.1:c.*2365C>G	ENSP00000504353.1:n.*2365C>G
ENST00000678546.1:c.*2061C>G	ENSP00000503062.1:n.*2061C>G
ENST00000678548.1:c.*2255C>G	ENSP00000503934.1:n.*2255C>G
ENST00000678626.1:n.1952C>G
ENST00000678739.1:c.*2282C>G	ENSP00000503806.1:n.*2282C>G
ENST00000678833.1:c.*1868C>G	ENSP00000503893.1:n.*1868C>G
ENST00000679023.1:c.1954C>G	ENSP00000503718.1:p.Pro652Ala
ENST00000679076.1:c.1735C>G
ENST00000679111.1:c.*872C>G	ENSP00000504257.1:n.*872C>G
ENST00000679189.1:c.1765C>G	ENSP00000503356.1:p.Pro589Ala
ENST00000341012.11:c.1954C>G	ENSP00000343034.7:p.Pro652Ala
ENST00000372220.4:c.979C>G	ENSP00000361294.4:p.Pro327Ala
ENST00000372228.7:c.2182C>G	ENSP00000361302.3:p.Pro728Ala
ENST00000402686.7:c.2116C>G	ENSP00000385797.3:p.Pro706Ala
ENST00000404875.6:c.1765C>G	ENSP00000384531.2:p.Pro589Ala
ENST00000423007.5:c.2116C>G	ENSP00000404119.1:p.Pro706Ala
ENST00000485278.5:n.2666C>G
NM_001077365.1:c.2116C>G	NP_001070833.1:p.Pro706Ala
NM_001077366.1:c.1954C>G	NP_001070834.1:p.Pro652Ala
NM_001136113.1:c.2116C>G	NP_001129585.1:p.Pro706Ala
NM_001136114.1:c.1765C>G	NP_001129586.1:p.Pro589Ala
NM_007171.3:c.2182C>G	NP_009102.3:p.Pro728Ala
XM_005272156.1:c.2182C>G	XP_005272213.1:p.Pro728Ala
XM_005272158.1:c.2020C>G	XP_005272215.1:p.Pro674Ala
XM_005272159.1:c.1831C>G	XP_005272216.1:p.Pro611Ala
XM_005272162.1:c.985C>G	XP_005272219.1:p.Pro329Ala
XM_006716932.1:c.1831C>G	XP_006716995.1:p.Pro611Ala
XM_011518140.1:c.2035C>G	XP_011516442.1:p.Pro679Ala
XM_011518141.1:c.1969C>G	XP_011516443.1:p.Pro657Ala
XM_011518142.1:c.1873C>G	XP_011516444.1:p.Pro625Ala
XM_011518143.1:c.1867C>G	XP_011516445.1:p.Pro623Ala
XM_011518145.1:c.1726C>G	XP_011516447.1:p.Pro576Ala
XM_011518147.1:c.1054C>G	XP_011516449.1:p.Pro352Ala
XR_929703.1:n.2358C>G
NM_001353193.1:c.2182C>G	NP_001340122.1:p.Pro728Ala
NM_001353194.1:c.1954C>G	NP_001340123.1:p.Pro652Ala
NM_001353195.1:c.1765C>G	NP_001340124.1:p.Pro589Ala
NM_001353196.1:c.2026C>G	NP_001340125.1:p.Pro676Ala
NM_001353197.1:c.2020C>G	NP_001340126.1:p.Pro674Ala
NM_001353198.1:c.2020C>G	NP_001340127.1:p.Pro674Ala
NM_001353199.1:c.1831C>G	NP_001340128.1:p.Pro611Ala
NM_001353200.1:c.1660C>G	NP_001340129.1:p.Pro554Ala
NR_148391.1:n.2166C>G
NR_148392.1:n.2384C>G
NR_148393.1:n.2305C>G
NR_148394.1:n.2059C>G
NR_148395.1:n.2457C>G
NR_148396.1:n.2091C>G
NR_148397.1:n.2216C>G
NR_148398.1:n.2171C>G
NR_148399.1:n.2697C>G
NR_148400.1:n.2296C>G
XM_005272162.3:c.985C>G	XP_005272219.1:p.Pro329Ala
XM_006716932.2:c.1831C>G	XP_006716995.1:p.Pro611Ala
XM_011518140.2:c.2035C>G	XP_011516442.1:p.Pro679Ala
XM_011518141.2:c.1969C>G	XP_011516443.1:p.Pro657Ala
XM_011518142.2:c.1873C>G	XP_011516444.1:p.Pro625Ala
XM_011518143.2:c.1867C>G	XP_011516445.1:p.Pro623Ala
XM_011518145.2:c.1726C>G	XP_011516447.1:p.Pro576Ala
XM_017014205.2:c.985C>G	XP_016869694.1:p.Pro329Ala
XM_024447380.1:c.985C>G	XP_024303148.1:p.Pro329Ala
XM_024447381.1:c.1291C>G	XP_024303149.1:p.Pro431Ala
XM_024447382.1:c.985C>G	XP_024303150.1:p.Pro329Ala
XR_001746160.2:n.2286C>G
XR_001746162.2:n.2491C>G
XR_001746164.1:n.2208C>G
XR_001746166.2:n.2503C>G
NM_001077365.2:c.2116C>G MANE Select	NP_001070833.1:p.Pro706Ala
NM_001077366.2:c.1954C>G	NP_001070834.1:p.Pro652Ala
NM_001136113.2:c.2116C>G	NP_001129585.1:p.Pro706Ala
NM_001136114.2:c.1765C>G	NP_001129586.1:p.Pro589Ala
NM_001353193.2:c.2182C>G	NP_001340122.2:p.Pro728Ala
NM_001353194.2:c.1954C>G	NP_001340123.1:p.Pro652Ala
NM_001353195.2:c.1765C>G	NP_001340124.1:p.Pro589Ala
NM_001353196.2:c.2026C>G	NP_001340125.1:p.Pro676Ala
NM_001353197.2:c.2020C>G	NP_001340126.2:p.Pro674Ala
NM_001353198.2:c.2020C>G	NP_001340127.2:p.Pro674Ala
NM_001353199.2:c.1831C>G	NP_001340128.2:p.Pro611Ala
NM_001353200.2:c.1660C>G	NP_001340129.1:p.Pro554Ala
NM_001374689.1:c.2104C>G	NP_001361618.1:p.Pro702Ala
NM_001374690.1:c.1897C>G	NP_001361619.1:p.Pro633Ala
NM_001374691.1:c.1765C>G	NP_001361620.1:p.Pro589Ala
NM_001374692.1:c.1765C>G	NP_001361621.1:p.Pro589Ala
NM_001374693.1:c.1765C>G	NP_001361622.1:p.Pro589Ala
NM_001374695.1:c.1726C>G	NP_001361624.1:p.Pro576Ala
NM_007171.4:c.2182C>G	NP_009102.4:p.Pro728Ala
NR_148391.2:n.2150C>G
NR_148392.2:n.2368C>G
NR_148393.2:n.2289C>G
NR_148394.2:n.2043C>G
NR_148395.2:n.2441C>G
NR_148396.2:n.2075C>G
NR_148397.2:n.2200C>G
NR_148398.2:n.2155C>G
NR_148399.2:n.2681C>G
NR_148400.2:n.2280C>G