Canonical Allele Identifier: CA375645183

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399390G>T (hg19) ; chr9:g.136504938G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504938G>T , CM000671.2:g.136504938G>T	GRCh38
NC_000009.11:g.139399390G>T , CM000671.1:g.139399390G>T	GRCh37
NC_000009.10:g.138519211G>T	NCBI36
NG_007458.1:g.45849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2560C>A
ENST00000651671.1:c.4753C>A MANE Select	ENSP00000498587.1:p.Leu1585Met
ENST00000679595.1:c.4753C>A	ENSP00000506241.1:p.Leu1585Met
ENST00000680133.1:c.4639C>A	ENSP00000505319.1:p.Leu1547Met
ENST00000680218.1:c.4633C>A	ENSP00000505339.1:p.Leu1545Met
ENST00000680668.1:c.4639C>A	ENSP00000506336.1:p.Leu1547Met
ENST00000680778.1:c.2350C>A	ENSP00000506033.1:p.Leu784Met
ENST00000680924.1:c.*2153C>A	ENSP00000506031.1:n.*2153C>A
ENST00000681135.1:c.*2362C>A	ENSP00000506636.1:n.*2362C>A
ENST00000681298.1:n.1566C>A
ENST00000681454.1:c.*3989C>A	ENSP00000505763.1:n.*3989C>A
ENST00000277541.6:c.4753C>A	ENSP00000277541.6:p.Leu1585Met
NM_017617.3:c.4753C>A	NP_060087.3:p.Leu1585Met
XM_011518717.1:c.4054C>A	XP_011517019.1:p.Leu1352Met
NM_017617.5:c.4753C>A MANE Select	NP_060087.3:p.Leu1585Met
XM_011518717.2:c.4030C>A	XP_011517019.2:p.Leu1344Met