Canonical Allele Identifier: CA375645284
Community Standard Title: NM_017617.5(NOTCH1):c.4730T>C (p.Val1577Ala)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504961A>G , CM000671.2:g.136504961A>G GRCh38
NC_000009.11:g.139399413A>G , CM000671.1:g.139399413A>G GRCh37
NC_000009.10:g.138519234A>G NCBI36
NG_007458.1:g.45826T>C

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4730T>C MANE Select NP_060087.3:p.Val1577Ala
ENST00000651671.1:c.4730T>C MANE Select ENSP00000498587.1:p.Val1577Ala
NM_017617.3:c.4730T>C NP_060087.3:p.Val1577Ala
ENST00000277541.6:c.4730T>C ENSP00000277541.6:p.Val1577Ala
ENST00000645828.1:n.2537T>C
ENST00000679595.1:c.4730T>C ENSP00000506241.1:p.Val1577Ala
ENST00000680133.1:c.4616T>C ENSP00000505319.1:p.Val1539Ala
ENST00000680218.1:c.4610T>C ENSP00000505339.1:p.Val1537Ala
ENST00000680668.1:c.4616T>C ENSP00000506336.1:p.Val1539Ala
ENST00000680778.1:c.2327T>C ENSP00000506033.1:p.Val776Ala
ENST00000680924.1:c.*2130T>C ENSP00000506031.1:n.*2130T>C
ENST00000681135.1:c.*2339T>C ENSP00000506636.1:n.*2339T>C
ENST00000681298.1:n.1543T>C
ENST00000681454.1:c.*3966T>C ENSP00000505763.1:n.*3966T>C
XM_011518717.1:c.4031T>C XP_011517019.1:p.Val1344Ala
XM_011518717.2:c.4007T>C XP_011517019.2:p.Val1336Ala