Canonical Allele Identifier: CA417636281

Gene: CPT2

Linked Data

• ClinVar Variation Id: 740886
• ClinVar RCV Id: RCV001272279
• dbSNP Id: rs1350688021
• gnomAD v2: 1-53662651-G-C
• gnomAD v4: 1-53196979-G-C
• MyVariant Identifiers: chr1:g.53662651G>C (hg19) ; chr1:g.53196979G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196979G>C , CM000663.2:g.53196979G>C	GRCh38
NC_000001.10:g.53662651G>C , CM000663.1:g.53662651G>C	GRCh37
NC_000001.9:g.53435239G>C	NCBI36
NG_008035.1:g.5551G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.36G>C MANE Select	ENSP00000360541.3:p.Arg12=
ENST00000468572.2:n.121G>C
ENST00000635862.1:c.36G>C	ENSP00000490867.1:p.Arg12=
ENST00000635888.1:c.36G>C	ENSP00000490042.1:p.Arg12=
ENST00000636239.1:c.36G>C	ENSP00000490066.1:p.Arg12=
ENST00000636867.1:c.36G>C	ENSP00000489631.1:p.Arg12=
ENST00000636891.1:c.36G>C	ENSP00000490399.1:p.Arg12=
ENST00000636935.1:c.36G>C	ENSP00000489757.1:p.Arg12=
ENST00000637252.1:c.36G>C	ENSP00000490492.1:p.Arg12=
ENST00000638135.1:c.36G>C	ENSP00000489756.1:p.Arg12=
ENST00000371486.3:c.36G>C	ENSP00000360541.3:p.Arg12=
ENST00000468572.1:n.121G>C
NM_000098.2:c.36G>C	NP_000089.1:p.Arg12=
XM_005270484.1:c.36G>C	XP_005270541.1:p.Arg12=
NM_001330589.1:c.36G>C	NP_001317518.1:p.Arg12=
NM_000098.3:c.36G>C MANE Select	NP_000089.1:p.Arg12=
NM_001330589.2:c.36G>C	NP_001317518.1:p.Arg12=