Canonical Allele Identifier: CA366604014

Gene: MAD1L1

Linked Data

• gnomAD v4: 7-2225426-C-G
• MyVariant Identifiers: chr7:g.2265061C>G (hg19) ; chr7:g.2225426C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225426C>G , CM000669.2:g.2225426C>G	GRCh38
NC_000007.13:g.2265061C>G , CM000669.1:g.2265061C>G	GRCh37
NC_000007.12:g.2231587C>G	NCBI36
NG_011518.1:g.12523G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265854.12:c.275G>C MANE Select	ENSP00000265854.7:p.Ser92Thr
ENST00000651235.1:c.*2683G>C	ENSP00000498895.1:n.*2683G>C
ENST00000265854.11:c.275G>C	ENSP00000265854.7:p.Ser92Thr
ENST00000399654.6:c.275G>C	ENSP00000382562.2:p.Ser92Thr
ENST00000402746.5:c.-124-2672G>C	ENSP00000384155.1:n.-124-2672G>C
ENST00000406869.5:c.275G>C	ENSP00000385334.1:p.Ser92Thr
ENST00000429625.5:c.62G>C	ENSP00000413139.1:p.Ser21Thr
ENST00000429779.1:c.275G>C	ENSP00000395457.1:p.Ser92Thr
ENST00000455998.5:c.151-2672G>C	ENSP00000390099.1:n.151-2672G>C
NM_001013836.1:c.275G>C	NP_001013858.1:p.Ser92Thr
NM_001013837.1:c.275G>C	NP_001013859.1:p.Ser92Thr
NM_001304523.1:c.275G>C	NP_001291452.1:p.Ser92Thr
NM_001304524.1:c.-124-2672G>C	NP_001291453.1:n.-124-2672G>C
NM_003550.2:c.275G>C	NP_003541.2:p.Ser92Thr
XM_005249877.1:c.151-2672G>C	XP_005249934.1:n.151-2672G>C
XM_011515567.1:c.275G>C	XP_011513869.1:p.Ser92Thr
XM_011515568.1:c.275G>C	XP_011513870.1:p.Ser92Thr
XM_011515570.1:c.275G>C	XP_011513872.1:p.Ser92Thr
XM_011515568.3:c.275G>C	XP_011513870.1:p.Ser92Thr
XM_017012690.1:c.467G>C	XP_016868179.1:p.Ser156Thr
XM_024446951.1:c.275G>C	XP_024302719.1:p.Ser92Thr
XM_024446952.1:c.275G>C	XP_024302720.1:p.Ser92Thr
NM_001013836.2:c.275G>C MANE Select	NP_001013858.1:p.Ser92Thr
NM_001013837.2:c.275G>C	NP_001013859.1:p.Ser92Thr
NM_001304523.2:c.275G>C	NP_001291452.1:p.Ser92Thr
NM_001304524.2:c.-124-2672G>C	NP_001291453.1:n.-124-2672G>C
NM_003550.3:c.275G>C	NP_003541.2:p.Ser92Thr