Canonical Allele Identifier: CA1682853094
Gene: MAD1L1 HGNC NCBI

Linked Data

dbSNP Id: rs12699477

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1929317T>A , CM000669.2:g.1929317T>A GRCh38
NC_000007.13:g.1968953T>A , CM000669.1:g.1968953T>A GRCh37
NC_000007.12:g.1935479T>A NCBI36
NG_011518.1:g.308631A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265854.12:c.1807+7370A>T MANE Select ENSP00000265854.7:n.1807+7370A>T
ENST00000651235.1:c.*4567+7370A>T ENSP00000498895.1:n.*4567+7370A>T
ENST00000265854.11:c.1807+7370A>T ENSP00000265854.7:n.1807+7370A>T
ENST00000399654.6:c.1807+7370A>T ENSP00000382562.2:n.1807+7370A>T
ENST00000402746.5:c.1531+7370A>T ENSP00000384155.1:n.1531+7370A>T
ENST00000406869.5:c.1807+7370A>T ENSP00000385334.1:n.1807+7370A>T
ENST00000437877.1:c.175+7370A>T ENSP00000394069.1:n.175+7370A>T
ENST00000450235.5:c.460+7370A>T ENSP00000394886.1:n.460+7370A>T
NM_001013836.1:c.1807+7370A>T NP_001013858.1:n.1807+7370A>T
NM_001013837.1:c.1807+7370A>T NP_001013859.1:n.1807+7370A>T
NM_001304523.1:c.1807+7370A>T NP_001291452.1:n.1807+7370A>T
NM_001304524.1:c.1531+7370A>T NP_001291453.1:n.1531+7370A>T
NM_001304525.1:c.175+7370A>T NP_001291454.1:n.175+7370A>T
NM_003550.2:c.1807+7370A>T NP_003541.2:n.1807+7370A>T
XM_005249877.1:c.1666+7370A>T XP_005249934.1:n.1666+7370A>T
XM_011515567.1:c.1750+7370A>T XP_011513869.1:n.1750+7370A>T
XM_011515569.1:c.577+7370A>T XP_011513871.1:n.577+7370A>T
XM_011515571.1:c.577+7370A>T XP_011513873.1:n.577+7370A>T
XM_011515569.3:c.841+7370A>T XP_011513871.2:n.841+7370A>T
XM_017012690.1:c.1999+7370A>T XP_016868179.1:n.1999+7370A>T
XM_017012691.2:c.577+7370A>T XP_016868180.1:n.577+7370A>T
XM_024446951.1:c.1750+7370A>T XP_024302719.1:n.1750+7370A>T
XM_024446952.1:c.1750+7370A>T XP_024302720.1:n.1750+7370A>T
NM_001013836.2:c.1807+7370A>T MANE Select NP_001013858.1:n.1807+7370A>T
NM_001013837.2:c.1807+7370A>T NP_001013859.1:n.1807+7370A>T
NM_001304523.2:c.1807+7370A>T NP_001291452.1:n.1807+7370A>T
NM_001304524.2:c.1531+7370A>T NP_001291453.1:n.1531+7370A>T
NM_001304525.2:c.175+7370A>T NP_001291454.1:n.175+7370A>T
NM_003550.3:c.1807+7370A>T NP_003541.2:n.1807+7370A>T