Canonical Allele Identifier: CA375631159

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391604A>T (hg19) ; chr9:g.136497152A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497152A>T , CM000671.2:g.136497152A>T	GRCh38
NC_000009.11:g.139391604A>T , CM000671.1:g.139391604A>T	GRCh37
NC_000009.10:g.138511425A>T	NCBI36
NG_007458.1:g.53635T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6587T>A MANE Select	ENSP00000498587.1:p.Met2196Lys
ENST00000679595.1:c.*1627T>A	ENSP00000506241.1:n.*1627T>A
ENST00000679969.1:n.3183T>A
ENST00000680003.1:n.2919T>A
ENST00000680133.1:c.6473T>A	ENSP00000505319.1:p.Met2158Lys
ENST00000680218.1:c.6467T>A	ENSP00000505339.1:p.Met2156Lys
ENST00000680668.1:c.6473T>A	ENSP00000506336.1:p.Met2158Lys
ENST00000680778.1:c.4184T>A	ENSP00000506033.1:p.Met1395Lys
ENST00000680924.1:c.*3987T>A	ENSP00000506031.1:n.*3987T>A
ENST00000681135.1:c.*4196T>A	ENSP00000506636.1:n.*4196T>A
ENST00000681298.1:n.4692T>A
ENST00000681454.1:c.*5823T>A	ENSP00000505763.1:n.*5823T>A
ENST00000277541.6:c.6587T>A	ENSP00000277541.6:p.Met2196Lys
NM_017617.3:c.6587T>A	NP_060087.3:p.Met2196Lys
XM_011518717.1:c.5888T>A	XP_011517019.1:p.Met1963Lys
NM_017617.5:c.6587T>A MANE Select	NP_060087.3:p.Met2196Lys
XM_011518717.2:c.5864T>A	XP_011517019.2:p.Met1955Lys