Canonical Allele Identifier: CA4123822

Gene: MAD1L1

Linked Data

• dbSNP Id: rs771999947
• ExAC: 7:2265064 G / A
• gnomAD v2: 7-2265064-G-A
• gnomAD v4: 7-2225429-G-A
• MyVariant Identifiers: chr7:g.2265064G>A (hg19) ; chr7:g.2225429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225429G>A , CM000669.2:g.2225429G>A	GRCh38
NC_000007.13:g.2265064G>A , CM000669.1:g.2265064G>A	GRCh37
NC_000007.12:g.2231590G>A	NCBI36
NG_011518.1:g.12520C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265854.12:c.272C>T MANE Select	ENSP00000265854.7:p.Thr91Ile
ENST00000651235.1:c.*2680C>T	ENSP00000498895.1:n.*2680C>T
ENST00000265854.11:c.272C>T	ENSP00000265854.7:p.Thr91Ile
ENST00000399654.6:c.272C>T	ENSP00000382562.2:p.Thr91Ile
ENST00000402746.5:c.-124-2675C>T	ENSP00000384155.1:n.-124-2675C>T
ENST00000406869.5:c.272C>T	ENSP00000385334.1:p.Thr91Ile
ENST00000429625.5:c.59C>T	ENSP00000413139.1:p.Thr20Ile
ENST00000429779.1:c.272C>T	ENSP00000395457.1:p.Thr91Ile
ENST00000455998.5:c.151-2675C>T	ENSP00000390099.1:n.151-2675C>T
NM_001013836.1:c.272C>T	NP_001013858.1:p.Thr91Ile
NM_001013837.1:c.272C>T	NP_001013859.1:p.Thr91Ile
NM_001304523.1:c.272C>T	NP_001291452.1:p.Thr91Ile
NM_001304524.1:c.-124-2675C>T	NP_001291453.1:n.-124-2675C>T
NM_003550.2:c.272C>T	NP_003541.2:p.Thr91Ile
XM_005249877.1:c.151-2675C>T	XP_005249934.1:n.151-2675C>T
XM_011515567.1:c.272C>T	XP_011513869.1:p.Thr91Ile
XM_011515568.1:c.272C>T	XP_011513870.1:p.Thr91Ile
XM_011515570.1:c.272C>T	XP_011513872.1:p.Thr91Ile
XM_011515568.3:c.272C>T	XP_011513870.1:p.Thr91Ile
XM_017012690.1:c.464C>T	XP_016868179.1:p.Thr155Ile
XM_024446951.1:c.272C>T	XP_024302719.1:p.Thr91Ile
XM_024446952.1:c.272C>T	XP_024302720.1:p.Thr91Ile
NM_001013836.2:c.272C>T MANE Select	NP_001013858.1:p.Thr91Ile
NM_001013837.2:c.272C>T	NP_001013859.1:p.Thr91Ile
NM_001304523.2:c.272C>T	NP_001291452.1:p.Thr91Ile
NM_001304524.2:c.-124-2675C>T	NP_001291453.1:n.-124-2675C>T
NM_003550.3:c.272C>T	NP_003541.2:p.Thr91Ile