Canonical Allele Identifier: CA366604249

Gene: MAD1L1

Linked Data

• MyVariant Identifiers: chr7:g.2265172G>C (hg19) ; chr7:g.2225537G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225537G>C , CM000669.2:g.2225537G>C	GRCh38
NC_000007.13:g.2265172G>C , CM000669.1:g.2265172G>C	GRCh37
NC_000007.12:g.2231698G>C	NCBI36
NG_011518.1:g.12412C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265854.12:c.164C>G MANE Select	ENSP00000265854.7:p.Ala55Gly
ENST00000651235.1:c.*2572C>G	ENSP00000498895.1:n.*2572C>G
ENST00000265854.11:c.164C>G	ENSP00000265854.7:p.Ala55Gly
ENST00000399654.6:c.164C>G	ENSP00000382562.2:p.Ala55Gly
ENST00000402746.5:c.-124-2783C>G	ENSP00000384155.1:n.-124-2783C>G
ENST00000406869.5:c.164C>G	ENSP00000385334.1:p.Ala55Gly
ENST00000429625.5:c.-50C>G	ENSP00000413139.1:n.-50C>G
ENST00000429779.1:c.164C>G	ENSP00000395457.1:p.Ala55Gly
ENST00000455998.5:c.151-2783C>G	ENSP00000390099.1:n.151-2783C>G
NM_001013836.1:c.164C>G	NP_001013858.1:p.Ala55Gly
NM_001013837.1:c.164C>G	NP_001013859.1:p.Ala55Gly
NM_001304523.1:c.164C>G	NP_001291452.1:p.Ala55Gly
NM_001304524.1:c.-124-2783C>G	NP_001291453.1:n.-124-2783C>G
NM_003550.2:c.164C>G	NP_003541.2:p.Ala55Gly
XM_005249877.1:c.151-2783C>G	XP_005249934.1:n.151-2783C>G
XM_011515567.1:c.164C>G	XP_011513869.1:p.Ala55Gly
XM_011515568.1:c.164C>G	XP_011513870.1:p.Ala55Gly
XM_011515570.1:c.164C>G	XP_011513872.1:p.Ala55Gly
XM_011515568.3:c.164C>G	XP_011513870.1:p.Ala55Gly
XM_017012690.1:c.356C>G	XP_016868179.1:p.Ala119Gly
XM_024446951.1:c.164C>G	XP_024302719.1:p.Ala55Gly
XM_024446952.1:c.164C>G	XP_024302720.1:p.Ala55Gly
NM_001013836.2:c.164C>G MANE Select	NP_001013858.1:p.Ala55Gly
NM_001013837.2:c.164C>G	NP_001013859.1:p.Ala55Gly
NM_001304523.2:c.164C>G	NP_001291452.1:p.Ala55Gly
NM_001304524.2:c.-124-2783C>G	NP_001291453.1:n.-124-2783C>G
NM_003550.3:c.164C>G	NP_003541.2:p.Ala55Gly