Canonical Allele Identifier: CA859258

Gene: CPT2

Linked Data

• ClinVar Variation Id: 1057378
• ClinVar RCV Id: RCV001366345
• dbSNP Id: rs367796030
• ExAC: 1:53678951 G / A
• gnomAD v2: 1-53678951-G-A
• gnomAD v3: 1-53213279-G-A
• gnomAD v4: 1-53213279-G-A
• MyVariant Identifiers: chr1:g.53678951G>A (hg19) ; chr1:g.53213279G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213279G>A , CM000663.2:g.53213279G>A	GRCh38
NC_000001.10:g.53678951G>A , CM000663.1:g.53678951G>A	GRCh37
NC_000001.9:g.53451539G>A	NCBI36
NG_008035.1:g.21851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1661G>A MANE Select	ENSP00000360541.3:p.Arg554Gln
ENST00000635862.1:c.1628G>A	ENSP00000490867.1:p.Arg543Gln
ENST00000635888.1:c.*1647G>A	ENSP00000490042.1:n.*1647G>A
ENST00000636239.1:c.*1308G>A	ENSP00000490066.1:n.*1308G>A
ENST00000636867.1:c.1592G>A	ENSP00000489631.1:p.Arg531Gln
ENST00000636891.1:c.1711G>A	ENSP00000490399.1:p.Asp571Asn
ENST00000636935.1:c.356G>A	ENSP00000489757.1:p.Arg119Gln
ENST00000637252.1:c.1697G>A	ENSP00000490492.1:p.Arg566Gln
ENST00000638135.1:c.*1308G>A	ENSP00000489756.1:n.*1308G>A
ENST00000371486.3:c.1661G>A	ENSP00000360541.3:p.Arg554Gln
NM_000098.2:c.1661G>A	NP_000089.1:p.Arg554Gln
XM_005270484.1:c.1592G>A	XP_005270541.1:p.Arg531Gln
NM_001330589.1:c.1592G>A	NP_001317518.1:p.Arg531Gln
NM_000098.3:c.1661G>A MANE Select	NP_000089.1:p.Arg554Gln
NM_001330589.2:c.1592G>A	NP_001317518.1:p.Arg531Gln