Canonical Allele Identifier: CA467423424

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393844A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518457A>C , CM000671.2:g.131518457A>C	GRCh38
NC_000009.11:g.134393844A>C , CM000671.1:g.134393844A>C	GRCh37
NC_000009.10:g.133383665A>C	NCBI36
NG_008896.1:g.20556A>C
NG_008896.2:g.20556A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1123A>C	ENSP00000343034.7:p.Arg375=
ENST00000404875.7:n.1825A>C
ENST00000423007.6:c.1342A>C	ENSP00000404119.2:p.Arg448=
ENST00000677295.2:c.*1629A>C	ENSP00000504346.2:n.*1629A>C
ENST00000678264.2:c.*1468A>C	ENSP00000503157.2:n.*1468A>C
ENST00000682070.1:n.1750A>C
ENST00000682535.1:n.57A>C
ENST00000682539.1:c.223A>C
ENST00000682813.1:n.1550A>C
ENST00000683110.1:n.13A>C
ENST00000683392.1:n.4032A>C
ENST00000683712.1:n.1690A>C
ENST00000683900.1:n.3185A>C
ENST00000684062.1:n.1951A>C
ENST00000684579.1:n.3131A>C
ENST00000684679.1:n.512A>C
ENST00000341012.12:c.1123A>C	ENSP00000343034.7:p.Arg375=
ENST00000372220.5:c.154A>C	ENSP00000361294.5:p.Arg52=
ENST00000372228.9:c.1351A>C	ENSP00000361302.3:p.Arg451=
ENST00000402686.8:c.1285A>C MANE Select	ENSP00000385797.4:p.Arg429=
ENST00000676640.1:c.1285A>C	ENSP00000503281.1:p.Arg429=
ENST00000676803.1:c.460A>C	ENSP00000503093.1:p.Arg154=
ENST00000676835.1:c.*500A>C	ENSP00000502911.1:n.*500A>C
ENST00000677029.1:c.829A>C	ENSP00000502936.1:p.Arg277=
ENST00000677099.1:c.*995A>C	ENSP00000504553.1:n.*995A>C
ENST00000677216.1:c.934A>C	ENSP00000503772.1:p.Arg312=
ENST00000677221.1:n.310A>C
ENST00000677295.1:c.*662A>C	ENSP00000504346.1:n.*662A>C
ENST00000677444.1:c.1091A>C
ENST00000677586.1:n.766A>C
ENST00000677626.1:c.934A>C	ENSP00000503552.1:p.Arg312=
ENST00000677677.1:n.1245A>C
ENST00000677853.1:c.*293A>C	ENSP00000503488.1:n.*293A>C
ENST00000677944.1:c.547A>C
ENST00000677983.1:n.374A>C
ENST00000678202.1:n.305A>C
ENST00000678264.1:c.*662A>C	ENSP00000503157.1:n.*662A>C
ENST00000678303.1:c.1195A>C	ENSP00000503696.1:p.Arg399=
ENST00000678366.1:c.*1534A>C	ENSP00000504353.1:n.*1534A>C
ENST00000678546.1:c.*1230A>C	ENSP00000503062.1:n.*1230A>C
ENST00000678548.1:c.*1357A>C	ENSP00000503934.1:n.*1357A>C
ENST00000678626.1:n.982A>C
ENST00000678733.1:c.366A>C
ENST00000678739.1:c.*1611A>C	ENSP00000503806.1:n.*1611A>C
ENST00000678795.1:n.372A>C
ENST00000678833.1:c.*732A>C	ENSP00000503893.1:n.*732A>C
ENST00000678942.1:c.465A>C	ENSP00000504690.1:n.465A>C
ENST00000679023.1:c.1123A>C	ENSP00000503718.1:p.Arg375=
ENST00000679076.1:c.904A>C
ENST00000679111.1:c.1285A>C	ENSP00000504257.1:p.Arg429=
ENST00000679189.1:c.934A>C	ENSP00000503356.1:p.Arg312=
ENST00000341012.11:c.1123A>C	ENSP00000343034.7:p.Arg375=
ENST00000372220.4:c.148A>C	ENSP00000361294.4:p.Arg50=
ENST00000372228.7:c.1351A>C	ENSP00000361302.3:p.Arg451=
ENST00000402686.7:c.1285A>C	ENSP00000385797.3:p.Arg429=
ENST00000404875.6:c.934A>C	ENSP00000384531.2:p.Arg312=
ENST00000423007.5:c.1285A>C	ENSP00000404119.1:p.Arg429=
ENST00000485278.5:n.1840A>C
NM_001077365.1:c.1285A>C	NP_001070833.1:p.Arg429=
NM_001077366.1:c.1123A>C	NP_001070834.1:p.Arg375=
NM_001136113.1:c.1285A>C	NP_001129585.1:p.Arg429=
NM_001136114.1:c.934A>C	NP_001129586.1:p.Arg312=
NM_007171.3:c.1351A>C	NP_009102.3:p.Arg451=
XM_005272156.1:c.1351A>C	XP_005272213.1:p.Arg451=
XM_005272158.1:c.1189A>C	XP_005272215.1:p.Arg397=
XM_005272159.1:c.1000A>C	XP_005272216.1:p.Arg334=
XM_005272162.1:c.154A>C	XP_005272219.1:p.Arg52=
XM_006716932.1:c.1000A>C	XP_006716995.1:p.Arg334=
XM_011518140.1:c.1204A>C	XP_011516442.1:p.Arg402=
XM_011518141.1:c.1138A>C	XP_011516443.1:p.Arg380=
XM_011518142.1:c.1042A>C	XP_011516444.1:p.Arg348=
XM_011518143.1:c.1036A>C	XP_011516445.1:p.Arg346=
XM_011518144.1:c.1351A>C	XP_011516446.1:p.Arg451=
XM_011518145.1:c.895A>C	XP_011516447.1:p.Arg299=
XM_011518146.1:c.1036A>C	XP_011516448.1:p.Arg346=
XM_011518147.1:c.223A>C	XP_011516449.1:p.Arg75=
XR_929703.1:n.1527A>C
NM_001353193.1:c.1351A>C	NP_001340122.1:p.Arg451=
NM_001353194.1:c.1123A>C	NP_001340123.1:p.Arg375=
NM_001353195.1:c.934A>C	NP_001340124.1:p.Arg312=
NM_001353196.1:c.1195A>C	NP_001340125.1:p.Arg399=
NM_001353197.1:c.1189A>C	NP_001340126.1:p.Arg397=
NM_001353198.1:c.1189A>C	NP_001340127.1:p.Arg397=
NM_001353199.1:c.1000A>C	NP_001340128.1:p.Arg334=
NM_001353200.1:c.829A>C	NP_001340129.1:p.Arg277=
NR_148391.1:n.1335A>C
NR_148392.1:n.1553A>C
NR_148393.1:n.1335A>C
NR_148394.1:n.1228A>C
NR_148395.1:n.1487A>C
NR_148396.1:n.1121A>C
NR_148397.1:n.1385A>C
NR_148398.1:n.1340A>C
NR_148399.1:n.1727A>C
NR_148400.1:n.1326A>C
XM_005272162.3:c.154A>C	XP_005272219.1:p.Arg52=
XM_006716932.2:c.1000A>C	XP_006716995.1:p.Arg334=
XM_011518140.2:c.1204A>C	XP_011516442.1:p.Arg402=
XM_011518141.2:c.1138A>C	XP_011516443.1:p.Arg380=
XM_011518142.2:c.1042A>C	XP_011516444.1:p.Arg348=
XM_011518143.2:c.1036A>C	XP_011516445.1:p.Arg346=
XM_011518145.2:c.895A>C	XP_011516447.1:p.Arg299=
XM_017014205.2:c.154A>C	XP_016869694.1:p.Arg52=
XM_024447380.1:c.154A>C	XP_024303148.1:p.Arg52=
XM_024447381.1:c.460A>C	XP_024303149.1:p.Arg154=
XM_024447382.1:c.154A>C	XP_024303150.1:p.Arg52=
XR_001746160.2:n.1455A>C
XR_001746162.2:n.1521A>C
XR_001746164.1:n.1238A>C
XR_001746166.2:n.1672A>C
NM_001077365.2:c.1285A>C MANE Select	NP_001070833.1:p.Arg429=
NM_001077366.2:c.1123A>C	NP_001070834.1:p.Arg375=
NM_001136113.2:c.1285A>C	NP_001129585.1:p.Arg429=
NM_001136114.2:c.934A>C	NP_001129586.1:p.Arg312=
NM_001353193.2:c.1351A>C	NP_001340122.2:p.Arg451=
NM_001353194.2:c.1123A>C	NP_001340123.1:p.Arg375=
NM_001353195.2:c.934A>C	NP_001340124.1:p.Arg312=
NM_001353196.2:c.1195A>C	NP_001340125.1:p.Arg399=
NM_001353197.2:c.1189A>C	NP_001340126.2:p.Arg397=
NM_001353198.2:c.1189A>C	NP_001340127.2:p.Arg397=
NM_001353199.2:c.1000A>C	NP_001340128.2:p.Arg334=
NM_001353200.2:c.829A>C	NP_001340129.1:p.Arg277=
NM_001374689.1:c.1273A>C	NP_001361618.1:p.Arg425=
NM_001374690.1:c.1285A>C	NP_001361619.1:p.Arg429=
NM_001374691.1:c.934A>C	NP_001361620.1:p.Arg312=
NM_001374692.1:c.934A>C	NP_001361621.1:p.Arg312=
NM_001374693.1:c.934A>C	NP_001361622.1:p.Arg312=
NM_001374695.1:c.895A>C	NP_001361624.1:p.Arg299=
NM_007171.4:c.1351A>C	NP_009102.4:p.Arg451=
NR_148391.2:n.1319A>C
NR_148392.2:n.1537A>C
NR_148393.2:n.1319A>C
NR_148394.2:n.1212A>C
NR_148395.2:n.1471A>C
NR_148396.2:n.1105A>C
NR_148397.2:n.1369A>C
NR_148398.2:n.1324A>C
NR_148399.2:n.1711A>C
NR_148400.2:n.1310A>C