Canonical Allele Identifier: CA858937

Gene: CPT2

Linked Data

• ClinVar Variation Id: 460433
• ClinVar RCV Id: RCV000530003 ; RCV001449651 ; RCV000626610 ; RCV001571245 ; RCV003403273 ; RCV003456089 ; RCV003451158 ; RCV003451159 ; RCV004023832
• dbSNP Id: rs150888506
• ExAC: 1:53667997 A / C
• gnomAD v2: 1-53667997-A-C
• gnomAD v3: 1-53202325-A-C
• gnomAD v4: 1-53202325-A-C
• MyVariant Identifiers: chr1:g.53667997A>C (hg19) ; chr1:g.53202325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53202325A>C , CM000663.2:g.53202325A>C	GRCh38
NC_000001.10:g.53667997A>C , CM000663.1:g.53667997A>C	GRCh37
NC_000001.9:g.53440585A>C	NCBI36
NG_008035.1:g.10897A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.236A>C MANE Select	ENSP00000360541.3:p.Lys79Thr
ENST00000468572.2:n.321A>C
ENST00000635862.1:c.236A>C	ENSP00000490867.1:p.Lys79Thr
ENST00000635888.1:c.*222A>C	ENSP00000490042.1:n.*222A>C
ENST00000636239.1:c.233+1526A>C	ENSP00000490066.1:n.233+1526A>C
ENST00000636673.1:n.2549A>C
ENST00000636867.1:c.236A>C	ENSP00000489631.1:p.Lys79Thr
ENST00000636891.1:c.236A>C	ENSP00000490399.1:p.Lys79Thr
ENST00000636935.1:c.236A>C	ENSP00000489757.1:p.Lys79Thr
ENST00000637252.1:c.236A>C	ENSP00000490492.1:p.Lys79Thr
ENST00000638135.1:c.152+5230A>C	ENSP00000489756.1:n.152+5230A>C
ENST00000371486.3:c.236A>C	ENSP00000360541.3:p.Lys79Thr
ENST00000468572.1:n.321A>C
NM_000098.2:c.236A>C	NP_000089.1:p.Lys79Thr
XM_005270484.1:c.236A>C	XP_005270541.1:p.Lys79Thr
NM_001330589.1:c.236A>C	NP_001317518.1:p.Lys79Thr
NM_000098.3:c.236A>C MANE Select	NP_000089.1:p.Lys79Thr
NM_001330589.2:c.236A>C	NP_001317518.1:p.Lys79Thr