Canonical Allele Identifier: CA417874935

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1134309
• ClinVar RCV Id: RCV001469150
• dbSNP Id: rs2100273254
• MyVariant Identifiers: chr1:g.53676339C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210667C>A , CM000663.2:g.53210667C>A	GRCh38
NC_000001.10:g.53676339C>A , CM000663.1:g.53676339C>A	GRCh37
NC_000001.9:g.53448927C>A	NCBI36
NG_008035.1:g.19239C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.993C>A MANE Select	ENSP00000360541.3:p.Pro331=
ENST00000635862.1:c.993C>A	ENSP00000490867.1:p.Pro331=
ENST00000635888.1:c.*979C>A	ENSP00000490042.1:n.*979C>A
ENST00000636239.1:c.*640C>A	ENSP00000490066.1:n.*640C>A
ENST00000636867.1:c.993C>A	ENSP00000489631.1:p.Pro331=
ENST00000636891.1:c.993C>A	ENSP00000490399.1:p.Pro331=
ENST00000636935.1:c.341-2597C>A	ENSP00000489757.1:n.341-2597C>A
ENST00000637252.1:c.993C>A	ENSP00000490492.1:p.Pro331=
ENST00000637726.1:n.3193C>A
ENST00000638135.1:c.*640C>A	ENSP00000489756.1:n.*640C>A
ENST00000371486.3:c.993C>A	ENSP00000360541.3:p.Pro331=
NM_000098.2:c.993C>A	NP_000089.1:p.Pro331=
XM_005270484.1:c.993C>A	XP_005270541.1:p.Pro331=
NM_001330589.1:c.993C>A	NP_001317518.1:p.Pro331=
NM_000098.3:c.993C>A MANE Select	NP_000089.1:p.Pro331=
NM_001330589.2:c.993C>A	NP_001317518.1:p.Pro331=