Canonical Allele Identifier: CA859108

Gene: CPT2

Linked Data

• ClinVar Variation Id: 376799
• ClinVar RCV Id: RCV000427828 ; RCV000667275 ; RCV000763959 ; RCV001079544 ; RCV002289546 ; RCV003387839 ; RCV004022260 ; RCV003957893
• dbSNP Id: rs144658100
• ExAC: 1:53676371 T / C
• gnomAD v2: 1-53676371-T-C
• gnomAD v3: 1-53210699-T-C
• gnomAD v4: 1-53210699-T-C
• MyVariant Identifiers: chr1:g.53676371T>C (hg19) ; chr1:g.53210699T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210699T>C , CM000663.2:g.53210699T>C	GRCh38
NC_000001.10:g.53676371T>C , CM000663.1:g.53676371T>C	GRCh37
NC_000001.9:g.53448959T>C	NCBI36
NG_008035.1:g.19271T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1025T>C MANE Select	ENSP00000360541.3:p.Met342Thr
ENST00000635862.1:c.1025T>C	ENSP00000490867.1:p.Met342Thr
ENST00000635888.1:c.*1011T>C	ENSP00000490042.1:n.*1011T>C
ENST00000636239.1:c.*672T>C	ENSP00000490066.1:n.*672T>C
ENST00000636867.1:c.1025T>C	ENSP00000489631.1:p.Met342Thr
ENST00000636891.1:c.1025T>C	ENSP00000490399.1:p.Met342Thr
ENST00000636935.1:c.341-2565T>C	ENSP00000489757.1:n.341-2565T>C
ENST00000637252.1:c.1025T>C	ENSP00000490492.1:p.Met342Thr
ENST00000637726.1:n.3225T>C
ENST00000638135.1:c.*672T>C	ENSP00000489756.1:n.*672T>C
ENST00000371486.3:c.1025T>C	ENSP00000360541.3:p.Met342Thr
NM_000098.2:c.1025T>C	NP_000089.1:p.Met342Thr
XM_005270484.1:c.1025T>C	XP_005270541.1:p.Met342Thr
NM_001330589.1:c.1025T>C	NP_001317518.1:p.Met342Thr
NM_000098.3:c.1025T>C MANE Select	NP_000089.1:p.Met342Thr
NM_001330589.2:c.1025T>C	NP_001317518.1:p.Met342Thr