Canonical Allele Identifier: CA375314417

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134397518A>C (hg19) ; chr9:g.131522131A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131522131A>C , CM000671.2:g.131522131A>C	GRCh38
NC_000009.11:g.134397518A>C , CM000671.1:g.134397518A>C	GRCh37
NC_000009.10:g.133387339A>C	NCBI36
NG_008896.1:g.24230A>C
NG_008896.2:g.24230A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1748A>C	ENSP00000343034.7:p.Lys583Thr
ENST00000404875.7:n.2450A>C
ENST00000423007.6:c.1967A>C	ENSP00000404119.2:p.Lys656Thr
ENST00000677295.2:c.*2254A>C	ENSP00000504346.2:n.*2254A>C
ENST00000678264.2:c.*2093A>C	ENSP00000503157.2:n.*2093A>C
ENST00000682070.1:n.2291-71A>C
ENST00000682813.1:n.2314A>C
ENST00000683392.1:n.4573-71A>C
ENST00000683712.1:n.2315A>C
ENST00000683900.1:n.3810A>C
ENST00000684062.1:n.2576A>C
ENST00000684579.1:n.3756A>C
ENST00000684679.1:n.1137A>C
ENST00000341012.12:c.1748A>C	ENSP00000343034.7:p.Lys583Thr
ENST00000372220.5:c.779A>C	ENSP00000361294.5:p.Lys260Thr
ENST00000372228.9:c.1976A>C	ENSP00000361302.3:p.Lys659Thr
ENST00000402686.8:c.1910A>C MANE Select	ENSP00000385797.4:p.Lys637Thr
ENST00000676640.1:c.1910A>C	ENSP00000503281.1:p.Lys637Thr
ENST00000676803.1:c.971A>C	ENSP00000503093.1:p.Lys324Thr
ENST00000676835.1:c.*1125A>C	ENSP00000502911.1:n.*1125A>C
ENST00000677029.1:c.1454A>C	ENSP00000502936.1:p.Lys485Thr
ENST00000677099.1:c.*1620A>C	ENSP00000504553.1:n.*1620A>C
ENST00000677216.1:c.1559A>C	ENSP00000503772.1:p.Lys520Thr
ENST00000677221.1:n.935A>C
ENST00000677295.1:c.*1203-71A>C	ENSP00000504346.1:n.*1203-71A>C
ENST00000677444.1:c.1855A>C
ENST00000677586.1:n.1277A>C
ENST00000677626.1:c.1559A>C	ENSP00000503552.1:p.Lys520Thr
ENST00000677853.1:c.*918A>C	ENSP00000503488.1:n.*918A>C
ENST00000678202.1:n.1069A>C
ENST00000678264.1:c.*1287A>C	ENSP00000503157.1:n.*1287A>C
ENST00000678303.1:c.1820A>C	ENSP00000503696.1:p.Lys607Thr
ENST00000678366.1:c.*2159A>C	ENSP00000504353.1:n.*2159A>C
ENST00000678546.1:c.*1855A>C	ENSP00000503062.1:n.*1855A>C
ENST00000678548.1:c.*2049A>C	ENSP00000503934.1:n.*2049A>C
ENST00000678626.1:n.1746A>C
ENST00000678739.1:c.*2147-71A>C	ENSP00000503806.1:n.*2147-71A>C
ENST00000678833.1:c.*1662A>C	ENSP00000503893.1:n.*1662A>C
ENST00000679023.1:c.1748A>C	ENSP00000503718.1:p.Lys583Thr
ENST00000679076.1:c.1529A>C
ENST00000679111.1:c.*666A>C	ENSP00000504257.1:n.*666A>C
ENST00000679189.1:c.1559A>C	ENSP00000503356.1:p.Lys520Thr
ENST00000341012.11:c.1748A>C	ENSP00000343034.7:p.Lys583Thr
ENST00000372220.4:c.773A>C	ENSP00000361294.4:p.Lys258Thr
ENST00000372228.7:c.1976A>C	ENSP00000361302.3:p.Lys659Thr
ENST00000402686.7:c.1910A>C	ENSP00000385797.3:p.Lys637Thr
ENST00000404875.6:c.1559A>C	ENSP00000384531.2:p.Lys520Thr
ENST00000423007.5:c.1910A>C	ENSP00000404119.1:p.Lys637Thr
ENST00000485278.5:n.2460A>C
ENST00000494883.1:n.453A>C
NM_001077365.1:c.1910A>C	NP_001070833.1:p.Lys637Thr
NM_001077366.1:c.1748A>C	NP_001070834.1:p.Lys583Thr
NM_001136113.1:c.1910A>C	NP_001129585.1:p.Lys637Thr
NM_001136114.1:c.1559A>C	NP_001129586.1:p.Lys520Thr
NM_007171.3:c.1976A>C	NP_009102.3:p.Lys659Thr
XM_005272156.1:c.1976A>C	XP_005272213.1:p.Lys659Thr
XM_005272158.1:c.1814A>C	XP_005272215.1:p.Lys605Thr
XM_005272159.1:c.1625A>C	XP_005272216.1:p.Lys542Thr
XM_005272162.1:c.779A>C	XP_005272219.1:p.Lys260Thr
XM_006716932.1:c.1625A>C	XP_006716995.1:p.Lys542Thr
XM_011518140.1:c.1829A>C	XP_011516442.1:p.Lys610Thr
XM_011518141.1:c.1763A>C	XP_011516443.1:p.Lys588Thr
XM_011518142.1:c.1667A>C	XP_011516444.1:p.Lys556Thr
XM_011518143.1:c.1661A>C	XP_011516445.1:p.Lys554Thr
XM_011518145.1:c.1520A>C	XP_011516447.1:p.Lys507Thr
XM_011518147.1:c.848A>C	XP_011516449.1:p.Lys283Thr
XR_929703.1:n.2152A>C
NM_001353193.1:c.1976A>C	NP_001340122.1:p.Lys659Thr
NM_001353194.1:c.1748A>C	NP_001340123.1:p.Lys583Thr
NM_001353195.1:c.1559A>C	NP_001340124.1:p.Lys520Thr
NM_001353196.1:c.1820A>C	NP_001340125.1:p.Lys607Thr
NM_001353197.1:c.1814A>C	NP_001340126.1:p.Lys605Thr
NM_001353198.1:c.1814A>C	NP_001340127.1:p.Lys605Thr
NM_001353199.1:c.1625A>C	NP_001340128.1:p.Lys542Thr
NM_001353200.1:c.1454A>C	NP_001340129.1:p.Lys485Thr
NR_148391.1:n.1960A>C
NR_148392.1:n.2178A>C
NR_148393.1:n.2099A>C
NR_148394.1:n.1853A>C
NR_148395.1:n.2251A>C
NR_148396.1:n.1885A>C
NR_148397.1:n.2010A>C
NR_148398.1:n.1965A>C
NR_148399.1:n.2491A>C
NR_148400.1:n.2090A>C
XM_005272162.3:c.779A>C	XP_005272219.1:p.Lys260Thr
XM_006716932.2:c.1625A>C	XP_006716995.1:p.Lys542Thr
XM_011518140.2:c.1829A>C	XP_011516442.1:p.Lys610Thr
XM_011518141.2:c.1763A>C	XP_011516443.1:p.Lys588Thr
XM_011518142.2:c.1667A>C	XP_011516444.1:p.Lys556Thr
XM_011518143.2:c.1661A>C	XP_011516445.1:p.Lys554Thr
XM_011518145.2:c.1520A>C	XP_011516447.1:p.Lys507Thr
XM_017014205.2:c.779A>C	XP_016869694.1:p.Lys260Thr
XM_024447380.1:c.779A>C	XP_024303148.1:p.Lys260Thr
XM_024447381.1:c.1085A>C	XP_024303149.1:p.Lys362Thr
XM_024447382.1:c.779A>C	XP_024303150.1:p.Lys260Thr
XR_001746160.2:n.2080A>C
XR_001746162.2:n.2285A>C
XR_001746164.1:n.2002A>C
XR_001746166.2:n.2297A>C
NM_001077365.2:c.1910A>C MANE Select	NP_001070833.1:p.Lys637Thr
NM_001077366.2:c.1748A>C	NP_001070834.1:p.Lys583Thr
NM_001136113.2:c.1910A>C	NP_001129585.1:p.Lys637Thr
NM_001136114.2:c.1559A>C	NP_001129586.1:p.Lys520Thr
NM_001353193.2:c.1976A>C	NP_001340122.2:p.Lys659Thr
NM_001353194.2:c.1748A>C	NP_001340123.1:p.Lys583Thr
NM_001353195.2:c.1559A>C	NP_001340124.1:p.Lys520Thr
NM_001353196.2:c.1820A>C	NP_001340125.1:p.Lys607Thr
NM_001353197.2:c.1814A>C	NP_001340126.2:p.Lys605Thr
NM_001353198.2:c.1814A>C	NP_001340127.2:p.Lys605Thr
NM_001353199.2:c.1625A>C	NP_001340128.2:p.Lys542Thr
NM_001353200.2:c.1454A>C	NP_001340129.1:p.Lys485Thr
NM_001374689.1:c.1898A>C	NP_001361618.1:p.Lys633Thr
NM_001374690.1:c.1691A>C	NP_001361619.1:p.Lys564Thr
NM_001374691.1:c.1559A>C	NP_001361620.1:p.Lys520Thr
NM_001374692.1:c.1559A>C	NP_001361621.1:p.Lys520Thr
NM_001374693.1:c.1559A>C	NP_001361622.1:p.Lys520Thr
NM_001374695.1:c.1520A>C	NP_001361624.1:p.Lys507Thr
NM_007171.4:c.1976A>C	NP_009102.4:p.Lys659Thr
NR_148391.2:n.1944A>C
NR_148392.2:n.2162A>C
NR_148393.2:n.2083A>C
NR_148394.2:n.1837A>C
NR_148395.2:n.2235A>C
NR_148396.2:n.1869A>C
NR_148397.2:n.1994A>C
NR_148398.2:n.1949A>C
NR_148399.2:n.2475A>C
NR_148400.2:n.2074A>C