Canonical Allele Identifier: CA3165530957
Community Standard Title: NM_017617.5(NOTCH1):c.5965G= (p.Asp1989=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136499229C= , CM000671.2:g.136499229C= GRCh38
NC_000009.11:g.139393681C= , CM000671.1:g.139393681C= GRCh37
NC_000009.10:g.138513502C= NCBI36
NG_007458.1:g.51558G=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.5965G= MANE Select NP_060087.3:p.Asp1989=
ENST00000651671.1:c.5965G= MANE Select ENSP00000498587.1:p.Asp1989=
NM_017617.3:c.5965G= NP_060087.3:p.Asp1989=
ENST00000277541.6:c.5965G= ENSP00000277541.6:p.Asp1989=
ENST00000679595.1:c.*1005G= ENSP00000506241.1:n.*1005G=
ENST00000679969.1:n.2446G=
ENST00000680003.1:n.2297G=
ENST00000680133.1:c.5851G= ENSP00000505319.1:p.Asp1951=
ENST00000680218.1:c.5845G= ENSP00000505339.1:p.Asp1949=
ENST00000680668.1:c.5851G= ENSP00000506336.1:p.Asp1951=
ENST00000680778.1:c.3562G= ENSP00000506033.1:p.Asp1188=
ENST00000680924.1:c.*3365G= ENSP00000506031.1:n.*3365G=
ENST00000681135.1:c.*3574G= ENSP00000506636.1:n.*3574G=
ENST00000681298.1:n.4070G=
ENST00000681454.1:c.*5201G= ENSP00000505763.1:n.*5201G=
XM_011518717.1:c.5266G= XP_011517019.1:p.Asp1756=
XM_011518717.2:c.5242G= XP_011517019.2:p.Asp1748=