Canonical Allele Identifier: CA340397648

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53679074C>A (hg19) ; chr1:g.53213402C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213402C>A , CM000663.2:g.53213402C>A	GRCh38
NC_000001.10:g.53679074C>A , CM000663.1:g.53679074C>A	GRCh37
NC_000001.9:g.53451662C>A	NCBI36
NG_008035.1:g.21974C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1784C>A MANE Select	ENSP00000360541.3:p.Pro595Gln
ENST00000635862.1:c.1751C>A	ENSP00000490867.1:p.Pro584Gln
ENST00000635888.1:c.*1770C>A	ENSP00000490042.1:n.*1770C>A
ENST00000636239.1:c.*1431C>A	ENSP00000490066.1:n.*1431C>A
ENST00000636867.1:c.1715C>A	ENSP00000489631.1:p.Pro572Gln
ENST00000636891.1:c.*37C>A	ENSP00000490399.1:n.*37C>A
ENST00000636935.1:c.479C>A	ENSP00000489757.1:p.Pro160Gln
ENST00000637252.1:c.1820C>A	ENSP00000490492.1:p.Pro607Gln
ENST00000638135.1:c.*1431C>A	ENSP00000489756.1:n.*1431C>A
ENST00000371486.3:c.1784C>A	ENSP00000360541.3:p.Pro595Gln
NM_000098.2:c.1784C>A	NP_000089.1:p.Pro595Gln
XM_005270484.1:c.1715C>A	XP_005270541.1:p.Pro572Gln
NM_001330589.1:c.1715C>A	NP_001317518.1:p.Pro572Gln
NM_000098.3:c.1784C>A MANE Select	NP_000089.1:p.Pro595Gln
NM_001330589.2:c.1715C>A	NP_001317518.1:p.Pro572Gln