Canonical Allele Identifier: CA3165921490
Community Standard Title: NM_017617.5(NOTCH1):c.1393G= (p.Ala465=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136517800C= , CM000671.2:g.136517800C= GRCh38
NC_000009.11:g.139412252C= , CM000671.1:g.139412252C= GRCh37
NC_000009.10:g.138532073C= NCBI36
NG_007458.1:g.32987G=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.1393G= MANE Select NP_060087.3:p.Ala465=
ENST00000651671.1:c.1393G= MANE Select ENSP00000498587.1:p.Ala465=
NM_017617.3:c.1393G= NP_060087.3:p.Ala465=
ENST00000277541.6:c.1393G= ENSP00000277541.6:p.Ala465=
ENST00000679595.1:c.1393G= ENSP00000506241.1:p.Ala465=
ENST00000680133.1:c.1393G= ENSP00000505319.1:p.Ala465=
ENST00000680218.1:c.1393G= ENSP00000505339.1:p.Ala465=
ENST00000680668.1:c.1393G= ENSP00000506336.1:p.Ala465=
ENST00000680924.1:c.1393G= ENSP00000506031.1:p.Ala465=
ENST00000681135.1:c.1393G= ENSP00000506636.1:p.Ala465=
ENST00000681454.1:c.*629G= ENSP00000505763.1:n.*629G=
XM_011518717.1:c.694G= XP_011517019.1:p.Ala232=
XM_011518717.2:c.670G= XP_011517019.2:p.Ala224=