Canonical Allele Identifier: CA3165601233

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136516001T= , CM000671.2:g.136516001T=	GRCh38
NC_000009.11:g.139410453T= , CM000671.1:g.139410453T=	GRCh37
NC_000009.10:g.138530274T=	NCBI36
NG_007458.1:g.34786A=

Transcript Alleles

HGVS	Amino-acid Change
NM_017617.5:c.1649A= MANE Select	NP_060087.3:p.Tyr550=
ENST00000651671.1:c.1649A= MANE Select	ENSP00000498587.1:p.Tyr550=
NM_017617.3:c.1649A=	NP_060087.3:p.Tyr550=
ENST00000277541.6:c.1649A=	ENSP00000277541.6:p.Tyr550=
ENST00000679595.1:c.1649A=	ENSP00000506241.1:p.Tyr550=
ENST00000680133.1:c.1535A=	ENSP00000505319.1:p.Tyr512=
ENST00000680218.1:c.1649A=	ENSP00000505339.1:p.Tyr550=
ENST00000680668.1:c.1556-285A=	ENSP00000506336.1:n.1556-285A=
ENST00000680924.1:c.1649A=	ENSP00000506031.1:p.Tyr550=
ENST00000681135.1:c.1649A=	ENSP00000506636.1:p.Tyr550=
ENST00000681454.1:c.*885A=	ENSP00000505763.1:n.*885A=
XM_011518717.1:c.950A=	XP_011517019.1:p.Tyr317=
XM_011518717.2:c.926A=	XP_011517019.2:p.Tyr309=