Canonical Allele Identifier: CA366604255

Gene: MAD1L1

Linked Data

• MyVariant Identifiers: chr7:g.2265174T>G (hg19) ; chr7:g.2225539T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2225539T>G , CM000669.2:g.2225539T>G	GRCh38
NC_000007.13:g.2265174T>G , CM000669.1:g.2265174T>G	GRCh37
NC_000007.12:g.2231700T>G	NCBI36
NG_011518.1:g.12410A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265854.12:c.162A>C MANE Select	ENSP00000265854.7:p.Arg54Ser
ENST00000651235.1:c.*2570A>C	ENSP00000498895.1:n.*2570A>C
ENST00000265854.11:c.162A>C	ENSP00000265854.7:p.Arg54Ser
ENST00000399654.6:c.162A>C	ENSP00000382562.2:p.Arg54Ser
ENST00000402746.5:c.-124-2785A>C	ENSP00000384155.1:n.-124-2785A>C
ENST00000406869.5:c.162A>C	ENSP00000385334.1:p.Arg54Ser
ENST00000429625.5:c.-52A>C	ENSP00000413139.1:n.-52A>C
ENST00000429779.1:c.162A>C	ENSP00000395457.1:p.Arg54Ser
ENST00000455998.5:c.151-2785A>C	ENSP00000390099.1:n.151-2785A>C
NM_001013836.1:c.162A>C	NP_001013858.1:p.Arg54Ser
NM_001013837.1:c.162A>C	NP_001013859.1:p.Arg54Ser
NM_001304523.1:c.162A>C	NP_001291452.1:p.Arg54Ser
NM_001304524.1:c.-124-2785A>C	NP_001291453.1:n.-124-2785A>C
NM_003550.2:c.162A>C	NP_003541.2:p.Arg54Ser
XM_005249877.1:c.151-2785A>C	XP_005249934.1:n.151-2785A>C
XM_011515567.1:c.162A>C	XP_011513869.1:p.Arg54Ser
XM_011515568.1:c.162A>C	XP_011513870.1:p.Arg54Ser
XM_011515570.1:c.162A>C	XP_011513872.1:p.Arg54Ser
XM_011515568.3:c.162A>C	XP_011513870.1:p.Arg54Ser
XM_017012690.1:c.354A>C	XP_016868179.1:p.Arg118Ser
XM_024446951.1:c.162A>C	XP_024302719.1:p.Arg54Ser
XM_024446952.1:c.162A>C	XP_024302720.1:p.Arg54Ser
NM_001013836.2:c.162A>C MANE Select	NP_001013858.1:p.Arg54Ser
NM_001013837.2:c.162A>C	NP_001013859.1:p.Arg54Ser
NM_001304523.2:c.162A>C	NP_001291452.1:p.Arg54Ser
NM_001304524.2:c.-124-2785A>C	NP_001291453.1:n.-124-2785A>C
NM_003550.3:c.162A>C	NP_003541.2:p.Arg54Ser