Canonical Allele Identifier: CA859276

Gene: CPT2

Linked Data

• ClinVar Variation Id: 509629
• ClinVar RCV Id: RCV000602519 ; RCV000865148 ; RCV002506464 ; RCV003451401 ; RCV003451402 ; RCV003451403 ; RCV003451404
• dbSNP Id: rs141146189
• ExAC: 1:53679066 G / A
• gnomAD v2: 1-53679066-G-A
• gnomAD v3: 1-53213394-G-A
• gnomAD v4: 1-53213394-G-A
• MyVariant Identifiers: chr1:g.53679066G>A (hg19) ; chr1:g.53213394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213394G>A , CM000663.2:g.53213394G>A	GRCh38
NC_000001.10:g.53679066G>A , CM000663.1:g.53679066G>A	GRCh37
NC_000001.9:g.53451654G>A	NCBI36
NG_008035.1:g.21966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1776G>A MANE Select	ENSP00000360541.3:p.Leu592=
ENST00000635862.1:c.1743G>A	ENSP00000490867.1:p.Leu581=
ENST00000635888.1:c.*1762G>A	ENSP00000490042.1:n.*1762G>A
ENST00000636239.1:c.*1423G>A	ENSP00000490066.1:n.*1423G>A
ENST00000636867.1:c.1707G>A	ENSP00000489631.1:p.Leu569=
ENST00000636891.1:c.*29G>A	ENSP00000490399.1:n.*29G>A
ENST00000636935.1:c.471G>A	ENSP00000489757.1:p.Leu157=
ENST00000637252.1:c.1812G>A	ENSP00000490492.1:p.Leu604=
ENST00000638135.1:c.*1423G>A	ENSP00000489756.1:n.*1423G>A
ENST00000371486.3:c.1776G>A	ENSP00000360541.3:p.Leu592=
NM_000098.2:c.1776G>A	NP_000089.1:p.Leu592=
XM_005270484.1:c.1707G>A	XP_005270541.1:p.Leu569=
NM_001330589.1:c.1707G>A	NP_001317518.1:p.Leu569=
NM_000098.3:c.1776G>A MANE Select	NP_000089.1:p.Leu592=
NM_001330589.2:c.1707G>A	NP_001317518.1:p.Leu569=