Canonical Allele Identifier: CA2212087784

Linked Data

dbSNP Id: rs2019383881

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20663162T>C , CM000678.2:g.20663162T>C GRCh38
NC_000016.9:g.20674484T>C , CM000678.1:g.20674484T>C GRCh37
NC_000016.8:g.20581985T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000520010.6:c.913-1289A>G (ACSM1) MANE Select ENSP00000428047.1:n.913-1289A>G
ENST00000307493.8:c.913-1289A>G (ACSM1) ENSP00000301956.3:n.913-1289A>G
ENST00000519031.5:n.339-1289A>G (ACSM1)
ENST00000519745.5:c.*359-1289A>G (ACSM1) ENSP00000428650.1:n.*359-1289A>G
ENST00000520010.5:c.913-1289A>G (ACSM1) ENSP00000428047.1:n.913-1289A>G
ENST00000524149.5:c.30-1289A>G (ACSM1)
ENST00000568235.5:c.-190+52852T>C (ACSM3) ENSP00000457003.1:n.-190+52852T>C
NM_052956.2:c.913-1289A>G (ACSM1) NP_443188.2:n.913-1289A>G
XM_005255084.1:c.913-1289A>G (ACSM1) XP_005255141.1:n.913-1289A>G
XM_006721016.1:c.913-1289A>G (ACSM1) XP_006721079.1:n.913-1289A>G
XM_006721017.1:c.913-1289A>G (ACSM1) XP_006721080.1:n.913-1289A>G
XM_006721018.1:c.253-1289A>G (ACSM1) XP_006721081.1:n.253-1289A>G
XM_011545729.1:c.913-1289A>G (ACSM1) XP_011544031.1:n.913-1289A>G
XM_011545730.1:c.913-1289A>G (ACSM1) XP_011544032.1:n.913-1289A>G
XM_011545731.1:c.316-1289A>G (ACSM1) XP_011544033.1:n.316-1289A>G
XM_011545732.1:c.253-1289A>G (ACSM1) XP_011544034.1:n.253-1289A>G
XR_243258.1:n.960-1289A>G (ACSM1)
XR_429672.1:n.960-1289A>G (ACSM1)
XR_950737.1:n.960-1289A>G (ACSM1)
XR_950738.1:n.960-1289A>G (ACSM1)
XR_950740.1:n.960-1289A>G (ACSM1)
NM_001318890.1:c.913-1289A>G (ACSM1) NP_001305819.1:n.913-1289A>G
NR_134918.1:n.1042-1289A>G (ACSM1)
XM_006721016.3:c.913-1289A>G (ACSM1) XP_006721079.1:n.913-1289A>G
XM_006721017.3:c.913-1289A>G (ACSM1) XP_006721080.1:n.913-1289A>G
XM_006721018.2:c.253-1289A>G (ACSM1) XP_006721081.1:n.253-1289A>G
XM_011545729.3:c.913-1289A>G (ACSM1) XP_011544031.1:n.913-1289A>G
XM_011545730.3:c.913-1289A>G (ACSM1) XP_011544032.1:n.913-1289A>G
XM_011545731.2:c.316-1289A>G (ACSM1) XP_011544033.1:n.316-1289A>G
XM_011545732.2:c.253-1289A>G (ACSM1) XP_011544034.1:n.253-1289A>G
XM_017022914.2:c.913-1289A>G (ACSM1) XP_016878403.1:n.913-1289A>G
XM_017022915.1:c.199-1289A>G (ACSM1) XP_016878404.1:n.199-1289A>G
XM_024450148.1:c.253-1289A>G (ACSM1) XP_024305916.1:n.253-1289A>G
XR_001751827.2:n.1072-1289A>G (ACSM1)
XR_001751828.2:n.1072-1289A>G (ACSM1)
XR_243258.3:n.1072-1289A>G (ACSM1)
XR_429672.3:n.1072-1289A>G (ACSM1)
XR_950737.3:n.1072-1289A>G (ACSM1)
XR_950738.3:n.1072-1289A>G (ACSM1)
NM_052956.3:c.913-1289A>G (ACSM1) NP_443188.2:n.913-1289A>G
NM_001318890.3:c.913-1289A>G (ACSM1) MANE Select NP_001305819.1:n.913-1289A>G
NR_134918.2:n.1042-1289A>G (ACSM1)