Canonical Allele Identifier: CA375645177
Community Standard Title: NM_017617.5(NOTCH1):c.4754T>G (p.Leu1585Arg)
Gene: NOTCH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.136504937A>C , CM000671.2:g.136504937A>C GRCh38
NC_000009.11:g.139399389A>C , CM000671.1:g.139399389A>C GRCh37
NC_000009.10:g.138519210A>C NCBI36
NG_007458.1:g.45850T>G

Transcript Alleles

HGVS Amino-acid Change
NM_017617.5:c.4754T>G MANE Select NP_060087.3:p.Leu1585Arg
ENST00000651671.1:c.4754T>G MANE Select ENSP00000498587.1:p.Leu1585Arg
NM_017617.3:c.4754T>G NP_060087.3:p.Leu1585Arg
ENST00000277541.6:c.4754T>G ENSP00000277541.6:p.Leu1585Arg
ENST00000645828.1:n.2561T>G
ENST00000679595.1:c.4754T>G ENSP00000506241.1:p.Leu1585Arg
ENST00000680133.1:c.4640T>G ENSP00000505319.1:p.Leu1547Arg
ENST00000680218.1:c.4634T>G ENSP00000505339.1:p.Leu1545Arg
ENST00000680668.1:c.4640T>G ENSP00000506336.1:p.Leu1547Arg
ENST00000680778.1:c.2351T>G ENSP00000506033.1:p.Leu784Arg
ENST00000680924.1:c.*2154T>G ENSP00000506031.1:n.*2154T>G
ENST00000681135.1:c.*2363T>G ENSP00000506636.1:n.*2363T>G
ENST00000681298.1:n.1567T>G
ENST00000681454.1:c.*3990T>G ENSP00000505763.1:n.*3990T>G
XM_011518717.1:c.4055T>G XP_011517019.1:p.Leu1352Arg
XM_011518717.2:c.4031T>G XP_011517019.2:p.Leu1344Arg
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