Canonical Allele Identifier: CA5341294

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136511260C>T , CM000671.2:g.136511260C>T	GRCh38
NC_000009.11:g.139405712C>T , CM000671.1:g.139405712C>T	GRCh37
NC_000009.10:g.138525533C>T	NCBI36
NG_007458.1:g.39527G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.2479G>A MANE Select	NP_060087.3:p.Glu827Lys
ENST00000651671.1:c.2479G>A MANE Select	ENSP00000498587.1:p.Glu827Lys
NM_017617.3:c.2479G>A	NP_060087.3:p.Glu827Lys
ENST00000277541.6:c.2479G>A	ENSP00000277541.6:p.Glu827Lys
ENST00000645828.1:n.286G>A
ENST00000646957.2:n.102G>A
ENST00000679595.1:c.2479G>A	ENSP00000506241.1:p.Glu827Lys
ENST00000680133.1:c.2365G>A	ENSP00000505319.1:p.Glu789Lys
ENST00000680218.1:c.2479G>A	ENSP00000505339.1:p.Glu827Lys
ENST00000680668.1:c.2365G>A	ENSP00000506336.1:p.Glu789Lys
ENST00000680778.1:c.76G>A	ENSP00000506033.1:p.Glu26Lys
ENST00000680924.1:c.2479G>A	ENSP00000506031.1:p.Glu827Lys
ENST00000681135.1:c.*88G>A	ENSP00000506636.1:n.*88G>A
ENST00000681454.1:c.*1715G>A	ENSP00000505763.1:n.*1715G>A
XM_011518717.1:c.1780G>A	XP_011517019.1:p.Glu594Lys
XM_011518717.2:c.1756G>A	XP_011517019.2:p.Glu586Lys