Canonical Allele Identifier: CA417636146

Gene: CPT2

Linked Data

• ClinVar Variation Id: 796465
• ClinVar RCV Id: RCV000979854
• dbSNP Id: rs1572378219
• gnomAD v4: 1-53196949-G-A
• MyVariant Identifiers: chr1:g.53662621G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196949G>A , CM000663.2:g.53196949G>A	GRCh38
NC_000001.10:g.53662621G>A , CM000663.1:g.53662621G>A	GRCh37
NC_000001.9:g.53435209G>A	NCBI36
NG_008035.1:g.5521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.6G>A MANE Select	ENSP00000360541.3:p.Val2=
ENST00000468572.2:n.91G>A
ENST00000635862.1:c.6G>A	ENSP00000490867.1:p.Val2=
ENST00000635888.1:c.6G>A	ENSP00000490042.1:p.Val2=
ENST00000636239.1:c.6G>A	ENSP00000490066.1:p.Val2=
ENST00000636867.1:c.6G>A	ENSP00000489631.1:p.Val2=
ENST00000636891.1:c.6G>A	ENSP00000490399.1:p.Val2=
ENST00000636935.1:c.6G>A	ENSP00000489757.1:p.Val2=
ENST00000637252.1:c.6G>A	ENSP00000490492.1:p.Val2=
ENST00000638135.1:c.6G>A	ENSP00000489756.1:p.Val2=
ENST00000371486.3:c.6G>A	ENSP00000360541.3:p.Val2=
ENST00000468572.1:n.91G>A
NM_000098.2:c.6G>A	NP_000089.1:p.Val2=
XM_005270484.1:c.6G>A	XP_005270541.1:p.Val2=
NM_001330589.1:c.6G>A	NP_001317518.1:p.Val2=
NM_000098.3:c.6G>A MANE Select	NP_000089.1:p.Val2=
NM_001330589.2:c.6G>A	NP_001317518.1:p.Val2=