Canonical Allele Identifier: CA340397407

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1362042
• ClinVar RCV Id: RCV001932093
• dbSNP Id: rs2100278300
• MyVariant Identifiers: chr1:g.53678960T>A (hg19) ; chr1:g.53213288T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213288T>A , CM000663.2:g.53213288T>A	GRCh38
NC_000001.10:g.53678960T>A , CM000663.1:g.53678960T>A	GRCh37
NC_000001.9:g.53451548T>A	NCBI36
NG_008035.1:g.21860T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1670T>A MANE Select	ENSP00000360541.3:p.Phe557Tyr
ENST00000635862.1:c.1637T>A	ENSP00000490867.1:p.Phe546Tyr
ENST00000635888.1:c.*1656T>A	ENSP00000490042.1:n.*1656T>A
ENST00000636239.1:c.*1317T>A	ENSP00000490066.1:n.*1317T>A
ENST00000636867.1:c.1601T>A	ENSP00000489631.1:p.Phe534Tyr
ENST00000636891.1:c.1720T>A	ENSP00000490399.1:p.Leu574Met
ENST00000636935.1:c.365T>A	ENSP00000489757.1:p.Phe122Tyr
ENST00000637252.1:c.1706T>A	ENSP00000490492.1:p.Phe569Tyr
ENST00000638135.1:c.*1317T>A	ENSP00000489756.1:n.*1317T>A
ENST00000371486.3:c.1670T>A	ENSP00000360541.3:p.Phe557Tyr
NM_000098.2:c.1670T>A	NP_000089.1:p.Phe557Tyr
XM_005270484.1:c.1601T>A	XP_005270541.1:p.Phe534Tyr
NM_001330589.1:c.1601T>A	NP_001317518.1:p.Phe534Tyr
NM_000098.3:c.1670T>A MANE Select	NP_000089.1:p.Phe557Tyr
NM_001330589.2:c.1601T>A	NP_001317518.1:p.Phe534Tyr