Canonical Allele Identifier: CA254608
Gene: CPT2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8956
ClinVar RCV Id: RCV000009514 RCV000202449 RCV000415611
dbSNP Id: rs28936673
MyVariant Identifiers: chr1:g.53679173A>C (hg19) chr1:g.53213501A>C (hg38)
PubMed: PMID:1999498 PMID:8651281 PMID:10398215 PMID:20301431
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53213501A>C , CM000663.2:g.53213501A>C GRCh38
NC_000001.10:g.53679173A>C , CM000663.1:g.53679173A>C GRCh37
NC_000001.9:g.53451761A>C NCBI36
NG_008035.1:g.22073A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371486.4:c.1883A>C MANE Select ENSP00000360541.3:p.Tyr628Ser
ENST00000635862.1:c.1850A>C ENSP00000490867.1:p.Tyr617Ser
ENST00000635888.1:c.*1869A>C ENSP00000490042.1:n.*1869A>C
ENST00000636239.1:c.*1530A>C ENSP00000490066.1:n.*1530A>C
ENST00000636867.1:c.1814A>C ENSP00000489631.1:p.Tyr605Ser
ENST00000636891.1:c.*136A>C ENSP00000490399.1:n.*136A>C
ENST00000636935.1:c.578A>C ENSP00000489757.1:p.Tyr193Ser
ENST00000637252.1:c.1919A>C ENSP00000490492.1:p.Tyr640Ser
ENST00000638135.1:c.*1530A>C ENSP00000489756.1:n.*1530A>C
ENST00000371486.3:c.1883A>C ENSP00000360541.3:p.Tyr628Ser
NM_000098.2:c.1883A>C NP_000089.1:p.Tyr628Ser
XM_005270484.1:c.1814A>C XP_005270541.1:p.Tyr605Ser
NM_001330589.1:c.1814A>C NP_001317518.1:p.Tyr605Ser
NM_000098.3:c.1883A>C MANE Select NP_000089.1:p.Tyr628Ser
NM_001330589.2:c.1814A>C NP_001317518.1:p.Tyr605Ser
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