Canonical Allele Identifier: CA375631178

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391610G>T (hg19) ; chr9:g.136497158G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497158G>T , CM000671.2:g.136497158G>T	GRCh38
NC_000009.11:g.139391610G>T , CM000671.1:g.139391610G>T	GRCh37
NC_000009.10:g.138511431G>T	NCBI36
NG_007458.1:g.53629C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6581C>A MANE Select	ENSP00000498587.1:p.Ser2194Tyr
ENST00000679595.1:c.*1621C>A	ENSP00000506241.1:n.*1621C>A
ENST00000679969.1:n.3177C>A
ENST00000680003.1:n.2913C>A
ENST00000680133.1:c.6467C>A	ENSP00000505319.1:p.Ser2156Tyr
ENST00000680218.1:c.6461C>A	ENSP00000505339.1:p.Ser2154Tyr
ENST00000680668.1:c.6467C>A	ENSP00000506336.1:p.Ser2156Tyr
ENST00000680778.1:c.4178C>A	ENSP00000506033.1:p.Ser1393Tyr
ENST00000680924.1:c.*3981C>A	ENSP00000506031.1:n.*3981C>A
ENST00000681135.1:c.*4190C>A	ENSP00000506636.1:n.*4190C>A
ENST00000681298.1:n.4686C>A
ENST00000681454.1:c.*5817C>A	ENSP00000505763.1:n.*5817C>A
ENST00000277541.6:c.6581C>A	ENSP00000277541.6:p.Ser2194Tyr
NM_017617.3:c.6581C>A	NP_060087.3:p.Ser2194Tyr
XM_011518717.1:c.5882C>A	XP_011517019.1:p.Ser1961Tyr
NM_017617.5:c.6581C>A MANE Select	NP_060087.3:p.Ser2194Tyr
XM_011518717.2:c.5858C>A	XP_011517019.2:p.Ser1953Tyr