Canonical Allele Identifier: CA340393938

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1476459
• ClinVar RCV Id: RCV001977958
• dbSNP Id: rs2100272880
• MyVariant Identifiers: chr1:g.53676197C>T (hg19) ; chr1:g.53210525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210525C>T , CM000663.2:g.53210525C>T	GRCh38
NC_000001.10:g.53676197C>T , CM000663.1:g.53676197C>T	GRCh37
NC_000001.9:g.53448785C>T	NCBI36
NG_008035.1:g.19097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.851C>T MANE Select	ENSP00000360541.3:p.Pro284Leu
ENST00000635862.1:c.851C>T	ENSP00000490867.1:p.Pro284Leu
ENST00000635888.1:c.*837C>T	ENSP00000490042.1:n.*837C>T
ENST00000636239.1:c.*498C>T	ENSP00000490066.1:n.*498C>T
ENST00000636867.1:c.851C>T	ENSP00000489631.1:p.Pro284Leu
ENST00000636891.1:c.851C>T	ENSP00000490399.1:p.Pro284Leu
ENST00000636935.1:c.341-2739C>T	ENSP00000489757.1:n.341-2739C>T
ENST00000637252.1:c.851C>T	ENSP00000490492.1:p.Pro284Leu
ENST00000637726.1:n.3051C>T
ENST00000638135.1:c.*498C>T	ENSP00000489756.1:n.*498C>T
ENST00000371486.3:c.851C>T	ENSP00000360541.3:p.Pro284Leu
NM_000098.2:c.851C>T	NP_000089.1:p.Pro284Leu
XM_005270484.1:c.851C>T	XP_005270541.1:p.Pro284Leu
NM_001330589.1:c.851C>T	NP_001317518.1:p.Pro284Leu
NM_000098.3:c.851C>T MANE Select	NP_000089.1:p.Pro284Leu
NM_001330589.2:c.851C>T	NP_001317518.1:p.Pro284Leu