Canonical Allele Identifier: CA5340279

Gene: NOTCH1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136502059A>G , CM000671.2:g.136502059A>G	GRCh38
NC_000009.11:g.139396511A>G , CM000671.1:g.139396511A>G	GRCh37
NC_000009.10:g.138516332A>G	NCBI36
NG_007458.1:g.48728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.5414T>C MANE Select	ENSP00000498587.1:p.Leu1805Pro
ENST00000679595.1:c.*454T>C	ENSP00000506241.1:n.*454T>C
ENST00000679969.1:n.603T>C
ENST00000680003.1:n.454T>C
ENST00000680133.1:c.5300T>C	ENSP00000505319.1:p.Leu1767Pro
ENST00000680218.1:c.5294T>C	ENSP00000505339.1:p.Leu1765Pro
ENST00000680668.1:c.5300T>C	ENSP00000506336.1:p.Leu1767Pro
ENST00000680778.1:c.3011T>C	ENSP00000506033.1:p.Leu1004Pro
ENST00000680924.1:c.*2814T>C	ENSP00000506031.1:n.*2814T>C
ENST00000681135.1:c.*3023T>C	ENSP00000506636.1:n.*3023T>C
ENST00000681298.1:n.2227T>C
ENST00000681454.1:c.*4650T>C	ENSP00000505763.1:n.*4650T>C
ENST00000277541.6:c.5414T>C	ENSP00000277541.6:p.Leu1805Pro
NM_017617.3:c.5414T>C	NP_060087.3:p.Leu1805Pro
XM_011518717.1:c.4715T>C	XP_011517019.1:p.Leu1572Pro
NM_017617.5:c.5414T>C MANE Select	NP_060087.3:p.Leu1805Pro
XM_011518717.2:c.4691T>C	XP_011517019.2:p.Leu1564Pro