Canonical Allele Identifier: CA10611231

Gene: CPT2

Linked Data

• ClinVar Variation Id: 297600
• ClinVar RCV Id: RCV000315815
• dbSNP Id: rs886046406
• gnomAD v3: 1-53196843-C-A
• gnomAD v4: 1-53196843-C-A
• MyVariant Identifiers: chr1:g.53662515C>A (hg19) ; chr1:g.53196843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196843C>A , CM000663.2:g.53196843C>A	GRCh38
NC_000001.10:g.53662515C>A , CM000663.1:g.53662515C>A	GRCh37
NC_000001.9:g.53435103C>A	NCBI36
NG_008035.1:g.5415C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.-101C>A MANE Select	ENSP00000360541.3:n.-101C>A
ENST00000635862.1:c.-101C>A	ENSP00000490867.1:n.-101C>A
ENST00000635888.1:c.-101C>A	ENSP00000490042.1:n.-101C>A
ENST00000636239.1:c.-101C>A	ENSP00000490066.1:n.-101C>A
ENST00000636867.1:c.-101C>A	ENSP00000489631.1:n.-101C>A
ENST00000636891.1:c.-101C>A	ENSP00000490399.1:n.-101C>A
ENST00000636935.1:c.-101C>A	ENSP00000489757.1:n.-101C>A
ENST00000637252.1:c.-101C>A	ENSP00000490492.1:n.-101C>A
ENST00000371486.3:c.-101C>A	ENSP00000360541.3:n.-101C>A
NM_000098.2:c.-101C>A	NP_000089.1:n.-101C>A
XM_005270484.1:c.-101C>A	XP_005270541.1:n.-101C>A
NM_001330589.1:c.-101C>A	NP_001317518.1:n.-101C>A
NM_000098.3:c.-101C>A MANE Select	NP_000089.1:n.-101C>A
NM_001330589.2:c.-101C>A	NP_001317518.1:n.-101C>A