Canonical Allele Identifier: CA5303180

Gene: CEL

Linked Data

• ClinVar Variation Id: 393420
• ClinVar RCV Id: RCV000445378 ; RCV004022535
• dbSNP Id: rs773990119
• ExAC: 9:135942557 C / T
• gnomAD v2: 9-135942557-C-T
• gnomAD v3: 9-133067170-C-T
• gnomAD v4: 9-133067170-C-T
• MyVariant Identifiers: chr9:g.135942557C>T (hg19) ; chr9:g.133067170C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133067170C>T , CM000671.2:g.133067170C>T	GRCh38
NC_000009.11:g.135942557C>T , CM000671.1:g.135942557C>T	GRCh37
NC_000009.10:g.134932378C>T	NCBI36
NG_016394.1:g.10193C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372080.8:c.860C>T MANE Select	ENSP00000361151.6:p.Thr287Met
ENST00000372080.6:c.869C>T	ENSP00000361151.4:p.Thr290Met
ENST00000621209.1:c.76-1502C>T	ENSP00000480238.1:n.76-1502C>T
NM_001807.4:c.869C>T	NP_001798.2:p.Thr290Met
NM_001807.5:c.860C>T	NP_001798.3:p.Thr287Met
NM_001807.6:c.860C>T MANE Select	NP_001798.3:p.Thr287Met