Canonical Allele Identifier: CA3165532844
Community Standard Title: NM_017617.5(NOTCH1):c.4663G= (p.Glu1555=)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136505028C= , CM000671.2:g.136505028C= GRCh38
NC_000009.11:g.139399480C= , CM000671.1:g.139399480C= GRCh37
NC_000009.10:g.138519301C= NCBI36
NG_007458.1:g.45759G=

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4663G= MANE Select NP_060087.3:p.Glu1555=
ENST00000651671.1:c.4663G= MANE Select ENSP00000498587.1:p.Glu1555=
NM_017617.3:c.4663G= NP_060087.3:p.Glu1555=
ENST00000277541.6:c.4663G= ENSP00000277541.6:p.Glu1555=
ENST00000645828.1:n.2470G=
ENST00000679595.1:c.4663G= ENSP00000506241.1:p.Glu1555=
ENST00000680133.1:c.4549G= ENSP00000505319.1:p.Glu1517=
ENST00000680218.1:c.4543G= ENSP00000505339.1:p.Glu1515=
ENST00000680668.1:c.4549G= ENSP00000506336.1:p.Glu1517=
ENST00000680778.1:c.2260G= ENSP00000506033.1:p.Glu754=
ENST00000680924.1:c.*2063G= ENSP00000506031.1:n.*2063G=
ENST00000681135.1:c.*2272G= ENSP00000506636.1:n.*2272G=
ENST00000681298.1:n.1476G=
ENST00000681454.1:c.*3899G= ENSP00000505763.1:n.*3899G=
XM_011518717.1:c.3964G= XP_011517019.1:p.Glu1322=
XM_011518717.2:c.3940G= XP_011517019.2:p.Glu1314=