Canonical Allele Identifier: CA453434411

Gene: MAD1L1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1898251G>A , CM000669.2:g.1898251G>A	GRCh38
NC_000007.13:g.1937887G>A , CM000669.1:g.1937887G>A	GRCh37
NC_000007.12:g.1904413G>A	NCBI36
NG_011518.1:g.339697C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265854.12:c.1947C>T MANE Select	ENSP00000265854.7:p.Tyr649=
ENST00000651235.1:c.*4707C>T	ENSP00000498895.1:n.*4707C>T
ENST00000265854.11:c.1947C>T	ENSP00000265854.7:p.Tyr649=
ENST00000399654.6:c.1947C>T	ENSP00000382562.2:p.Tyr649=
ENST00000402746.5:c.1671C>T	ENSP00000384155.1:p.Tyr557=
ENST00000406869.5:c.1947C>T	ENSP00000385334.1:p.Tyr649=
ENST00000437877.1:c.315C>T	ENSP00000394069.1:p.Tyr105=
ENST00000450235.5:c.600C>T	ENSP00000394886.1:p.Tyr200=
NM_001013836.1:c.1947C>T	NP_001013858.1:p.Tyr649=
NM_001013837.1:c.1947C>T	NP_001013859.1:p.Tyr649=
NM_001304523.1:c.1947C>T	NP_001291452.1:p.Tyr649=
NM_001304524.1:c.1671C>T	NP_001291453.1:p.Tyr557=
NM_001304525.1:c.315C>T	NP_001291454.1:p.Tyr105=
NM_003550.2:c.1947C>T	NP_003541.2:p.Tyr649=
XM_005249877.1:c.1806C>T	XP_005249934.1:p.Tyr602=
XM_011515567.1:c.1890C>T	XP_011513869.1:p.Tyr630=
XM_011515569.1:c.717C>T	XP_011513871.1:p.Tyr239=
XM_011515571.1:c.717C>T	XP_011513873.1:p.Tyr239=
XM_011515569.3:c.981C>T	XP_011513871.2:p.Tyr327=
XM_017012690.1:c.2139C>T	XP_016868179.1:p.Tyr713=
XM_017012691.2:c.717C>T	XP_016868180.1:p.Tyr239=
XM_024446951.1:c.1890C>T	XP_024302719.1:p.Tyr630=
XM_024446952.1:c.1890C>T	XP_024302720.1:p.Tyr630=
NM_001013836.2:c.1947C>T MANE Select	NP_001013858.1:p.Tyr649=
NM_001013837.2:c.1947C>T	NP_001013859.1:p.Tyr649=
NM_001304523.2:c.1947C>T	NP_001291452.1:p.Tyr649=
NM_001304524.2:c.1671C>T	NP_001291453.1:p.Tyr557=
NM_001304525.2:c.315C>T	NP_001291454.1:p.Tyr105=
NM_003550.3:c.1947C>T	NP_003541.2:p.Tyr649=