Canonical Allele Identifier: CA254605
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8953
ClinVar RCV Id: RCV001813968 RCV003137507
dbSNP Id: rs74315294
ExAC: 1:53668099 C / T
gnomAD v2: 1-53668099-C-T
gnomAD v3: 1-53202427-C-T
gnomAD v4: 1-53202427-C-T
MyVariant Identifiers: chr1:g.53668099C>T (hg19) chr1:g.53202427C>T (hg38)
PubMed: PMID:736528 PMID:2762996 PMID:8358442 PMID:8651281 PMID:8786066 PMID:9309694 PMID:10090476 PMID:10398215 PMID:12707442 PMID:15363638 PMID:15642848 PMID:16225172 PMID:16996287 PMID:18550408 PMID:20301431 PMID:20810031 PMID:21913903 PMID:23184072 PMID:23757202 PMID:23891399 PMID:24398345 PMID:24602495 PMID:27034144 PMID:27629963
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53202427C>T , CM000663.2:g.53202427C>T GRCh38
NC_000001.10:g.53668099C>T , CM000663.1:g.53668099C>T GRCh37
NC_000001.9:g.53440687C>T NCBI36
NG_008035.1:g.10999C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371486.4:c.338C>T MANE Select ENSP00000360541.3:p.Ser113Leu
ENST00000468572.2:n.423C>T
ENST00000635862.1:c.338C>T ENSP00000490867.1:p.Ser113Leu
ENST00000635888.1:c.*324C>T ENSP00000490042.1:n.*324C>T
ENST00000636239.1:c.233+1628C>T ENSP00000490066.1:n.233+1628C>T
ENST00000636673.1:n.2651C>T
ENST00000636867.1:c.338C>T ENSP00000489631.1:p.Ser113Leu
ENST00000636891.1:c.338C>T ENSP00000490399.1:p.Ser113Leu
ENST00000636935.1:c.338C>T ENSP00000489757.1:p.Ser113Leu
ENST00000637252.1:c.338C>T ENSP00000490492.1:p.Ser113Leu
ENST00000638135.1:c.152+5332C>T ENSP00000489756.1:n.152+5332C>T
ENST00000371486.3:c.338C>T ENSP00000360541.3:p.Ser113Leu
ENST00000468572.1:n.423C>T
NM_000098.2:c.338C>T NP_000089.1:p.Ser113Leu
XM_005270484.1:c.338C>T XP_005270541.1:p.Ser113Leu
NM_001330589.1:c.338C>T NP_001317518.1:p.Ser113Leu
NM_000098.3:c.338C>T MANE Select NP_000089.1:p.Ser113Leu
NM_001330589.2:c.338C>T NP_001317518.1:p.Ser113Leu
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