Canonical Allele Identifier: CA736855639

Gene: CPT2

Linked Data

• dbSNP Id: rs1362686979
• gnomAD v3: 1-53213182-T-A
• gnomAD v4: 1-53213182-T-A
• MyVariant Identifiers: chr1:g.53678854T>A (hg19) ; chr1:g.53213182T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213182T>A , CM000663.2:g.53213182T>A	GRCh38
NC_000001.10:g.53678854T>A , CM000663.1:g.53678854T>A	GRCh37
NC_000001.9:g.53451442T>A	NCBI36
NG_008035.1:g.21754T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1646-82T>A MANE Select	ENSP00000360541.3:n.1646-82T>A
ENST00000635862.1:c.1613-82T>A	ENSP00000490867.1:n.1613-82T>A
ENST00000635888.1:c.*1632-82T>A	ENSP00000490042.1:n.*1632-82T>A
ENST00000636239.1:c.*1293-82T>A	ENSP00000490066.1:n.*1293-82T>A
ENST00000636867.1:c.1577-82T>A	ENSP00000489631.1:n.1577-82T>A
ENST00000636891.1:c.1696-82T>A	ENSP00000490399.1:n.1696-82T>A
ENST00000636935.1:c.341-82T>A	ENSP00000489757.1:n.341-82T>A
ENST00000637252.1:c.1682-82T>A	ENSP00000490492.1:n.1682-82T>A
ENST00000638135.1:c.*1293-82T>A	ENSP00000489756.1:n.*1293-82T>A
ENST00000371486.3:c.1646-82T>A	ENSP00000360541.3:n.1646-82T>A
NM_000098.2:c.1646-82T>A	NP_000089.1:n.1646-82T>A
XM_005270484.1:c.1577-82T>A	XP_005270541.1:n.1577-82T>A
NM_001330589.1:c.1577-82T>A	NP_001317518.1:n.1577-82T>A
NM_000098.3:c.1646-82T>A MANE Select	NP_000089.1:n.1646-82T>A
NM_001330589.2:c.1577-82T>A	NP_001317518.1:n.1577-82T>A