Canonical Allele Identifier: CA375631228

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391623G>T (hg19) ; chr9:g.136497171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497171G>T , CM000671.2:g.136497171G>T	GRCh38
NC_000009.11:g.139391623G>T , CM000671.1:g.139391623G>T	GRCh37
NC_000009.10:g.138511444G>T	NCBI36
NG_007458.1:g.53616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6568C>A MANE Select	ENSP00000498587.1:p.Leu2190Met
ENST00000679595.1:c.*1608C>A	ENSP00000506241.1:n.*1608C>A
ENST00000679969.1:n.3164C>A
ENST00000680003.1:n.2900C>A
ENST00000680133.1:c.6454C>A	ENSP00000505319.1:p.Leu2152Met
ENST00000680218.1:c.6448C>A	ENSP00000505339.1:p.Leu2150Met
ENST00000680668.1:c.6454C>A	ENSP00000506336.1:p.Leu2152Met
ENST00000680778.1:c.4165C>A	ENSP00000506033.1:p.Leu1389Met
ENST00000680924.1:c.*3968C>A	ENSP00000506031.1:n.*3968C>A
ENST00000681135.1:c.*4177C>A	ENSP00000506636.1:n.*4177C>A
ENST00000681298.1:n.4673C>A
ENST00000681454.1:c.*5804C>A	ENSP00000505763.1:n.*5804C>A
ENST00000277541.6:c.6568C>A	ENSP00000277541.6:p.Leu2190Met
NM_017617.3:c.6568C>A	NP_060087.3:p.Leu2190Met
XM_011518717.1:c.5869C>A	XP_011517019.1:p.Leu1957Met
NM_017617.5:c.6568C>A MANE Select	NP_060087.3:p.Leu2190Met
XM_011518717.2:c.5845C>A	XP_011517019.2:p.Leu1949Met