Canonical Allele Identifier: CA366604239

Gene: MAD1L1

Linked Data

• dbSNP Id: rs780906276
• gnomAD v2: 7-2265167-G-T
• gnomAD v4: 7-2225532-G-T
• MyVariant Identifiers: chr7:g.2265167G>T (hg19) ; chr7:g.2225532G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225532G>T , CM000669.2:g.2225532G>T	GRCh38
NC_000007.13:g.2265167G>T , CM000669.1:g.2265167G>T	GRCh37
NC_000007.12:g.2231693G>T	NCBI36
NG_011518.1:g.12417C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265854.12:c.169C>A MANE Select	ENSP00000265854.7:p.Gln57Lys
ENST00000651235.1:c.*2577C>A	ENSP00000498895.1:n.*2577C>A
ENST00000265854.11:c.169C>A	ENSP00000265854.7:p.Gln57Lys
ENST00000399654.6:c.169C>A	ENSP00000382562.2:p.Gln57Lys
ENST00000402746.5:c.-124-2778C>A	ENSP00000384155.1:n.-124-2778C>A
ENST00000406869.5:c.169C>A	ENSP00000385334.1:p.Gln57Lys
ENST00000429625.5:c.-45C>A	ENSP00000413139.1:n.-45C>A
ENST00000429779.1:c.169C>A	ENSP00000395457.1:p.Gln57Lys
ENST00000455998.5:c.151-2778C>A	ENSP00000390099.1:n.151-2778C>A
NM_001013836.1:c.169C>A	NP_001013858.1:p.Gln57Lys
NM_001013837.1:c.169C>A	NP_001013859.1:p.Gln57Lys
NM_001304523.1:c.169C>A	NP_001291452.1:p.Gln57Lys
NM_001304524.1:c.-124-2778C>A	NP_001291453.1:n.-124-2778C>A
NM_003550.2:c.169C>A	NP_003541.2:p.Gln57Lys
XM_005249877.1:c.151-2778C>A	XP_005249934.1:n.151-2778C>A
XM_011515567.1:c.169C>A	XP_011513869.1:p.Gln57Lys
XM_011515568.1:c.169C>A	XP_011513870.1:p.Gln57Lys
XM_011515570.1:c.169C>A	XP_011513872.1:p.Gln57Lys
XM_011515568.3:c.169C>A	XP_011513870.1:p.Gln57Lys
XM_017012690.1:c.361C>A	XP_016868179.1:p.Gln121Lys
XM_024446951.1:c.169C>A	XP_024302719.1:p.Gln57Lys
XM_024446952.1:c.169C>A	XP_024302720.1:p.Gln57Lys
NM_001013836.2:c.169C>A MANE Select	NP_001013858.1:p.Gln57Lys
NM_001013837.2:c.169C>A	NP_001013859.1:p.Gln57Lys
NM_001304523.2:c.169C>A	NP_001291452.1:p.Gln57Lys
NM_001304524.2:c.-124-2778C>A	NP_001291453.1:n.-124-2778C>A
NM_003550.3:c.169C>A	NP_003541.2:p.Gln57Lys