Canonical Allele Identifier: CA417636313

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1151782
• ClinVar RCV Id: RCV001492852
• dbSNP Id: rs761850684
• gnomAD v4: 1-53196988-G-C
• MyVariant Identifiers: chr1:g.53662660G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196988G>C , CM000663.2:g.53196988G>C	GRCh38
NC_000001.10:g.53662660G>C , CM000663.1:g.53662660G>C	GRCh37
NC_000001.9:g.53435248G>C	NCBI36
NG_008035.1:g.5560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.45G>C MANE Select	ENSP00000360541.3:p.Ala15=
ENST00000468572.2:n.130G>C
ENST00000635862.1:c.45G>C	ENSP00000490867.1:p.Ala15=
ENST00000635888.1:c.45G>C	ENSP00000490042.1:p.Ala15=
ENST00000636239.1:c.45G>C	ENSP00000490066.1:p.Ala15=
ENST00000636867.1:c.45G>C	ENSP00000489631.1:p.Ala15=
ENST00000636891.1:c.45G>C	ENSP00000490399.1:p.Ala15=
ENST00000636935.1:c.45G>C	ENSP00000489757.1:p.Ala15=
ENST00000637252.1:c.45G>C	ENSP00000490492.1:p.Ala15=
ENST00000638135.1:c.45G>C	ENSP00000489756.1:p.Ala15=
ENST00000371486.3:c.45G>C	ENSP00000360541.3:p.Ala15=
ENST00000468572.1:n.130G>C
NM_000098.2:c.45G>C	NP_000089.1:p.Ala15=
XM_005270484.1:c.45G>C	XP_005270541.1:p.Ala15=
NM_001330589.1:c.45G>C	NP_001317518.1:p.Ala15=
NM_000098.3:c.45G>C MANE Select	NP_000089.1:p.Ala15=
NM_001330589.2:c.45G>C	NP_001317518.1:p.Ala15=