Canonical Allele Identifier: CA859317

Gene: CPT2

Linked Data

• ClinVar Variation Id: 529866
• ClinVar RCV Id: RCV000635368 ; RCV003451519 ; RCV003451520 ; RCV003451521 ; RCV003456110
• dbSNP Id: rs369202713
• ExAC: 1:53679226 G / A
• gnomAD v4: 1-53213554-G-A
• MyVariant Identifiers: chr1:g.53679226G>A (hg19) ; chr1:g.53213554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213554G>A , CM000663.2:g.53213554G>A	GRCh38
NC_000001.10:g.53679226G>A , CM000663.1:g.53679226G>A	GRCh37
NC_000001.9:g.53451814G>A	NCBI36
NG_008035.1:g.22126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1936G>A MANE Select	ENSP00000360541.3:p.Asp646Asn
ENST00000635862.1:c.1903G>A	ENSP00000490867.1:p.Asp635Asn
ENST00000635888.1:c.*1922G>A	ENSP00000490042.1:n.*1922G>A
ENST00000636239.1:c.*1583G>A	ENSP00000490066.1:n.*1583G>A
ENST00000636867.1:c.1867G>A	ENSP00000489631.1:p.Asp623Asn
ENST00000636891.1:c.*189G>A	ENSP00000490399.1:n.*189G>A
ENST00000636935.1:c.631G>A	ENSP00000489757.1:p.Asp211Asn
ENST00000637252.1:c.1972G>A	ENSP00000490492.1:p.Asp658Asn
ENST00000638135.1:c.*1583G>A	ENSP00000489756.1:n.*1583G>A
ENST00000371486.3:c.1936G>A	ENSP00000360541.3:p.Asp646Asn
NM_000098.2:c.1936G>A	NP_000089.1:p.Asp646Asn
XM_005270484.1:c.1867G>A	XP_005270541.1:p.Asp623Asn
NM_001330589.1:c.1867G>A	NP_001317518.1:p.Asp623Asn
NM_000098.3:c.1936G>A MANE Select	NP_000089.1:p.Asp646Asn
NM_001330589.2:c.1867G>A	NP_001317518.1:p.Asp623Asn