Canonical Allele Identifier: CA1884231546

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497539A= , CM000671.2:g.136497539A=	GRCh38
NC_000009.11:g.139391991A= , CM000671.1:g.139391991A=	GRCh37
NC_000009.10:g.138511812A=	NCBI36
NG_007458.1:g.53248T=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.6200T= MANE Select	NP_060087.3:p.Leu2067=
ENST00000651671.1:c.6200T= MANE Select	ENSP00000498587.1:p.Leu2067=
NM_017617.3:c.6200T=	NP_060087.3:p.Leu2067=
ENST00000277541.6:c.6200T=	ENSP00000277541.6:p.Leu2067=
ENST00000679595.1:c.*1240T=	ENSP00000506241.1:n.*1240T=
ENST00000679969.1:n.2796T=
ENST00000680003.1:n.2532T=
ENST00000680133.1:c.6086T=	ENSP00000505319.1:p.Leu2029=
ENST00000680218.1:c.6080T=	ENSP00000505339.1:p.Leu2027=
ENST00000680668.1:c.6086T=	ENSP00000506336.1:p.Leu2029=
ENST00000680778.1:c.3797T=	ENSP00000506033.1:p.Leu1266=
ENST00000680924.1:c.*3600T=	ENSP00000506031.1:n.*3600T=
ENST00000681135.1:c.*3809T=	ENSP00000506636.1:n.*3809T=
ENST00000681298.1:n.4305T=
ENST00000681454.1:c.*5436T=	ENSP00000505763.1:n.*5436T=
XM_011518717.1:c.5501T=	XP_011517019.1:p.Leu1834=
XM_011518717.2:c.5477T=	XP_011517019.2:p.Leu1826=