Canonical Allele Identifier: CA417875022

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53678955C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213283C>T , CM000663.2:g.53213283C>T	GRCh38
NC_000001.10:g.53678955C>T , CM000663.1:g.53678955C>T	GRCh37
NC_000001.9:g.53451543C>T	NCBI36
NG_008035.1:g.21855C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1665C>T MANE Select	ENSP00000360541.3:p.His555=
ENST00000635862.1:c.1632C>T	ENSP00000490867.1:p.His544=
ENST00000635888.1:c.*1651C>T	ENSP00000490042.1:n.*1651C>T
ENST00000636239.1:c.*1312C>T	ENSP00000490066.1:n.*1312C>T
ENST00000636867.1:c.1596C>T	ENSP00000489631.1:p.His532=
ENST00000636891.1:c.1715C>T	ENSP00000490399.1:p.Thr572Ile
ENST00000636935.1:c.360C>T	ENSP00000489757.1:p.His120=
ENST00000637252.1:c.1701C>T	ENSP00000490492.1:p.His567=
ENST00000638135.1:c.*1312C>T	ENSP00000489756.1:n.*1312C>T
ENST00000371486.3:c.1665C>T	ENSP00000360541.3:p.His555=
NM_000098.2:c.1665C>T	NP_000089.1:p.His555=
XM_005270484.1:c.1596C>T	XP_005270541.1:p.His532=
NM_001330589.1:c.1596C>T	NP_001317518.1:p.His532=
NM_000098.3:c.1665C>T MANE Select	NP_000089.1:p.His555=
NM_001330589.2:c.1596C>T	NP_001317518.1:p.His532=