Canonical Allele Identifier: CA375644946
Community Standard Title: NM_017617.5(NOTCH1):c.4799T>A (p.Leu1600Gln)
Gene: NOTCH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504892A>T , CM000671.2:g.136504892A>T GRCh38
NC_000009.11:g.139399344A>T , CM000671.1:g.139399344A>T GRCh37
NC_000009.10:g.138519165A>T NCBI36
NG_007458.1:g.45895T>A

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4799T>A MANE Select NP_060087.3:p.Leu1600Gln
ENST00000651671.1:c.4799T>A MANE Select ENSP00000498587.1:p.Leu1600Gln
NM_017617.3:c.4799T>A NP_060087.3:p.Leu1600Gln
ENST00000277541.6:c.4799T>A ENSP00000277541.6:p.Leu1600Gln
ENST00000645828.1:n.2606T>A
ENST00000679595.1:c.4799T>A ENSP00000506241.1:p.Leu1600Gln
ENST00000680133.1:c.4685T>A ENSP00000505319.1:p.Leu1562Gln
ENST00000680218.1:c.4679T>A ENSP00000505339.1:p.Leu1560Gln
ENST00000680668.1:c.4685T>A ENSP00000506336.1:p.Leu1562Gln
ENST00000680778.1:c.2396T>A ENSP00000506033.1:p.Leu799Gln
ENST00000680924.1:c.*2199T>A ENSP00000506031.1:n.*2199T>A
ENST00000681135.1:c.*2408T>A ENSP00000506636.1:n.*2408T>A
ENST00000681298.1:n.1612T>A
ENST00000681454.1:c.*4035T>A ENSP00000505763.1:n.*4035T>A
XM_011518717.1:c.4100T>A XP_011517019.1:p.Leu1367Gln
XM_011518717.2:c.4076T>A XP_011517019.2:p.Leu1359Gln