Canonical Allele Identifier: CA859116

Gene: CPT2

Linked Data

• dbSNP Id: rs750339299
• ExAC: 1:53676400 T / C
• gnomAD v2: 1-53676400-T-C
• gnomAD v4: 1-53210728-T-C
• MyVariant Identifiers: chr1:g.53676400T>C (hg19) ; chr1:g.53210728T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210728T>C , CM000663.2:g.53210728T>C	GRCh38
NC_000001.10:g.53676400T>C , CM000663.1:g.53676400T>C	GRCh37
NC_000001.9:g.53448988T>C	NCBI36
NG_008035.1:g.19300T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1054T>C MANE Select	ENSP00000360541.3:p.Phe352Leu
ENST00000635862.1:c.1054T>C	ENSP00000490867.1:p.Phe352Leu
ENST00000635888.1:c.*1040T>C	ENSP00000490042.1:n.*1040T>C
ENST00000636239.1:c.*701T>C	ENSP00000490066.1:n.*701T>C
ENST00000636867.1:c.1054T>C	ENSP00000489631.1:p.Phe352Leu
ENST00000636891.1:c.1054T>C	ENSP00000490399.1:p.Phe352Leu
ENST00000636935.1:c.341-2536T>C	ENSP00000489757.1:n.341-2536T>C
ENST00000637252.1:c.1054T>C	ENSP00000490492.1:p.Phe352Leu
ENST00000637726.1:n.3254T>C
ENST00000638135.1:c.*701T>C	ENSP00000489756.1:n.*701T>C
ENST00000371486.3:c.1054T>C	ENSP00000360541.3:p.Phe352Leu
NM_000098.2:c.1054T>C	NP_000089.1:p.Phe352Leu
XM_005270484.1:c.1054T>C	XP_005270541.1:p.Phe352Leu
NM_001330589.1:c.1054T>C	NP_001317518.1:p.Phe352Leu
NM_000098.3:c.1054T>C MANE Select	NP_000089.1:p.Phe352Leu
NM_001330589.2:c.1054T>C	NP_001317518.1:p.Phe352Leu