Canonical Allele Identifier: CA340388618

Gene: CPT2

Linked Data

• MyVariant Identifiers: chr1:g.53662653G>C (hg19) ; chr1:g.53196981G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196981G>C , CM000663.2:g.53196981G>C	GRCh38
NC_000001.10:g.53662653G>C , CM000663.1:g.53662653G>C	GRCh37
NC_000001.9:g.53435241G>C	NCBI36
NG_008035.1:g.5553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.38G>C MANE Select	ENSP00000360541.3:p.Gly13Ala
ENST00000468572.2:n.123G>C
ENST00000635862.1:c.38G>C	ENSP00000490867.1:p.Gly13Ala
ENST00000635888.1:c.38G>C	ENSP00000490042.1:p.Gly13Ala
ENST00000636239.1:c.38G>C	ENSP00000490066.1:p.Gly13Ala
ENST00000636867.1:c.38G>C	ENSP00000489631.1:p.Gly13Ala
ENST00000636891.1:c.38G>C	ENSP00000490399.1:p.Gly13Ala
ENST00000636935.1:c.38G>C	ENSP00000489757.1:p.Gly13Ala
ENST00000637252.1:c.38G>C	ENSP00000490492.1:p.Gly13Ala
ENST00000638135.1:c.38G>C	ENSP00000489756.1:p.Gly13Ala
ENST00000371486.3:c.38G>C	ENSP00000360541.3:p.Gly13Ala
ENST00000468572.1:n.123G>C
NM_000098.2:c.38G>C	NP_000089.1:p.Gly13Ala
XM_005270484.1:c.38G>C	XP_005270541.1:p.Gly13Ala
NM_001330589.1:c.38G>C	NP_001317518.1:p.Gly13Ala
NM_000098.3:c.38G>C MANE Select	NP_000089.1:p.Gly13Ala
NM_001330589.2:c.38G>C	NP_001317518.1:p.Gly13Ala