Canonical Allele Identifier: CA417875271

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53679075A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53213403A>T , CM000663.2:g.53213403A>T	GRCh38
NC_000001.10:g.53679075A>T , CM000663.1:g.53679075A>T	GRCh37
NC_000001.9:g.53451663A>T	NCBI36
NG_008035.1:g.21975A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1785A>T MANE Select	ENSP00000360541.3:p.Pro595=
ENST00000635862.1:c.1752A>T	ENSP00000490867.1:p.Pro584=
ENST00000635888.1:c.*1771A>T	ENSP00000490042.1:n.*1771A>T
ENST00000636239.1:c.*1432A>T	ENSP00000490066.1:n.*1432A>T
ENST00000636867.1:c.1716A>T	ENSP00000489631.1:p.Pro572=
ENST00000636891.1:c.*38A>T	ENSP00000490399.1:n.*38A>T
ENST00000636935.1:c.480A>T	ENSP00000489757.1:p.Pro160=
ENST00000637252.1:c.1821A>T	ENSP00000490492.1:p.Pro607=
ENST00000638135.1:c.*1432A>T	ENSP00000489756.1:n.*1432A>T
ENST00000371486.3:c.1785A>T	ENSP00000360541.3:p.Pro595=
NM_000098.2:c.1785A>T	NP_000089.1:p.Pro595=
XM_005270484.1:c.1716A>T	XP_005270541.1:p.Pro572=
NM_001330589.1:c.1716A>T	NP_001317518.1:p.Pro572=
NM_000098.3:c.1785A>T MANE Select	NP_000089.1:p.Pro595=
NM_001330589.2:c.1716A>T	NP_001317518.1:p.Pro572=