Canonical Allele Identifier: CA375634221

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139393566A>T (hg19) ; chr9:g.136499114A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136499114A>T , CM000671.2:g.136499114A>T	GRCh38
NC_000009.11:g.139393566A>T , CM000671.1:g.139393566A>T	GRCh37
NC_000009.10:g.138513387A>T	NCBI36
NG_007458.1:g.51673T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6080T>A MANE Select	ENSP00000498587.1:p.Leu2027Gln
ENST00000679595.1:c.*1120T>A	ENSP00000506241.1:n.*1120T>A
ENST00000679969.1:n.2561T>A
ENST00000680003.1:n.2412T>A
ENST00000680133.1:c.5966T>A	ENSP00000505319.1:p.Leu1989Gln
ENST00000680218.1:c.5960T>A	ENSP00000505339.1:p.Leu1987Gln
ENST00000680668.1:c.5966T>A	ENSP00000506336.1:p.Leu1989Gln
ENST00000680778.1:c.3677T>A	ENSP00000506033.1:p.Leu1226Gln
ENST00000680924.1:c.*3480T>A	ENSP00000506031.1:n.*3480T>A
ENST00000681135.1:c.*3689T>A	ENSP00000506636.1:n.*3689T>A
ENST00000681298.1:n.4185T>A
ENST00000681454.1:c.*5316T>A	ENSP00000505763.1:n.*5316T>A
ENST00000277541.6:c.6080T>A	ENSP00000277541.6:p.Leu2027Gln
NM_017617.3:c.6080T>A	NP_060087.3:p.Leu2027Gln
XM_011518717.1:c.5381T>A	XP_011517019.1:p.Leu1794Gln
NM_017617.5:c.6080T>A MANE Select	NP_060087.3:p.Leu2027Gln
XM_011518717.2:c.5357T>A	XP_011517019.2:p.Leu1786Gln