Canonical Allele Identifier: CA375642481
Community Standard Title: NM_017617.5(NOTCH1):c.5033T>C (p.Leu1678Pro)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136503316A>G , CM000671.2:g.136503316A>G GRCh38
NC_000009.11:g.139397768A>G , CM000671.1:g.139397768A>G GRCh37
NC_000009.10:g.138517589A>G NCBI36
NG_007458.1:g.47471T>C

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.5033T>C MANE Select NP_060087.3:p.Leu1678Pro
ENST00000651671.1:c.5033T>C MANE Select ENSP00000498587.1:p.Leu1678Pro
NM_017617.3:c.5033T>C NP_060087.3:p.Leu1678Pro
ENST00000277541.6:c.5033T>C ENSP00000277541.6:p.Leu1678Pro
ENST00000494783.1:n.188T>C
ENST00000645828.1:n.2840T>C
ENST00000679595.1:c.5033T>C ENSP00000506241.1:p.Leu1678Pro
ENST00000680133.1:c.4919T>C ENSP00000505319.1:p.Leu1640Pro
ENST00000680218.1:c.4913T>C ENSP00000505339.1:p.Leu1638Pro
ENST00000680668.1:c.4919T>C ENSP00000506336.1:p.Leu1640Pro
ENST00000680778.1:c.2630T>C ENSP00000506033.1:p.Leu877Pro
ENST00000680924.1:c.*2433T>C ENSP00000506031.1:n.*2433T>C
ENST00000681135.1:c.*2642T>C ENSP00000506636.1:n.*2642T>C
ENST00000681298.1:n.1846T>C
ENST00000681454.1:c.*4269T>C ENSP00000505763.1:n.*4269T>C
XM_011518717.1:c.4334T>C XP_011517019.1:p.Leu1445Pro
XM_011518717.2:c.4310T>C XP_011517019.2:p.Leu1437Pro