Canonical Allele Identifier: CA1167215214

Gene: CPT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210547G= , CM000663.2:g.53210547G=	GRCh38
NC_000001.10:g.53676219G= , CM000663.1:g.53676219G=	GRCh37
NC_000001.9:g.53448807G=	NCBI36
NG_008035.1:g.19119G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.873G= MANE Select	ENSP00000360541.3:p.Leu291=
ENST00000635862.1:c.873G=	ENSP00000490867.1:p.Leu291=
ENST00000635888.1:c.*859G=	ENSP00000490042.1:n.*859G=
ENST00000636239.1:c.*520G=	ENSP00000490066.1:n.*520G=
ENST00000636867.1:c.873G=	ENSP00000489631.1:p.Leu291=
ENST00000636891.1:c.873G=	ENSP00000490399.1:p.Leu291=
ENST00000636935.1:c.341-2717G=	ENSP00000489757.1:n.341-2717G=
ENST00000637252.1:c.873G=	ENSP00000490492.1:p.Leu291=
ENST00000637726.1:n.3073G=
ENST00000638135.1:c.*520G=	ENSP00000489756.1:n.*520G=
ENST00000371486.3:c.873G=	ENSP00000360541.3:p.Leu291=
NM_000098.2:c.873G=	NP_000089.1:p.Leu291=
XM_005270484.1:c.873G=	XP_005270541.1:p.Leu291=
NM_001330589.1:c.873G=	NP_001317518.1:p.Leu291=
NM_000098.3:c.873G= MANE Select	NP_000089.1:p.Leu291=
NM_001330589.2:c.873G=	NP_001317518.1:p.Leu291=