Canonical Allele Identifier: CA340397490

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213329C>A , CM000663.2:g.53213329C>A	GRCh38
NC_000001.10:g.53679001C>A , CM000663.1:g.53679001C>A	GRCh37
NC_000001.9:g.53451589C>A	NCBI36
NG_008035.1:g.21901C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000098.3:c.1711C>A MANE Select	NP_000089.1:p.Pro571Thr
ENST00000371486.4:c.1711C>A MANE Select	ENSP00000360541.3:p.Pro571Thr
NM_000098.2:c.1711C>A	NP_000089.1:p.Pro571Thr
NM_001330589.1:c.1642C>A	NP_001317518.1:p.Pro548Thr
NM_001330589.2:c.1642C>A	NP_001317518.1:p.Pro548Thr
ENST00000371486.3:c.1711C>A	ENSP00000360541.3:p.Pro571Thr
ENST00000635862.1:c.1678C>A	ENSP00000490867.1:p.Pro560Thr
ENST00000635888.1:c.*1697C>A	ENSP00000490042.1:n.*1697C>A
ENST00000636239.1:c.*1358C>A	ENSP00000490066.1:n.*1358C>A
ENST00000636867.1:c.1642C>A	ENSP00000489631.1:p.Pro548Thr
ENST00000636891.1:c.1761C>A	ENSP00000490399.1:p.Cys587Ter
ENST00000636935.1:c.406C>A	ENSP00000489757.1:p.Pro136Thr
ENST00000637252.1:c.1747C>A	ENSP00000490492.1:p.Pro583Thr
ENST00000638135.1:c.*1358C>A	ENSP00000489756.1:n.*1358C>A
XM_005270484.1:c.1642C>A	XP_005270541.1:p.Pro548Thr