Canonical Allele Identifier: CA231004

Gene: CEL

Linked Data

• ClinVar Variation Id: 128688
• ClinVar RCV Id: RCV000116660 ; RCV000735342
• dbSNP Id: rs587780309
• gnomAD v2: 9-135946855-G-C
• gnomAD v3: 9-133071468-G-C
• gnomAD v4: 9-133071468-G-C
• MyVariant Identifiers: chr9:g.135946855G>C (hg19) ; chr9:g.135946855_135946921delinsCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGC (hg19) ; chr9:g.133071468G>C (hg38) ; chr9:g.133071468_133071534delinsCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACGCCGGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133071468G>C , CM000671.2:g.133071468G>C	GRCh38
NC_000009.11:g.135946855G>C , CM000671.1:g.135946855G>C	GRCh37
NC_000009.10:g.134936676G>C	NCBI36
NG_016394.1:g.14491G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372080.8:c.1966G>C MANE Select	ENSP00000361151.6:p.Ala656Pro
ENST00000372080.6:c.1975G>C	ENSP00000361151.4:p.Ala659Pro
ENST00000621209.1:c.*723+243G>C	ENSP00000480238.1:n.*723+243G>C
NM_001807.4:c.1975G>C	NP_001798.2:p.Ala659Pro
NM_001807.5:c.1966G>C	NP_001798.3:p.Ala656Pro
NM_001807.6:c.1966G>C MANE Select	NP_001798.3:p.Ala656Pro