Canonical Allele Identifier: CA1167215480
Gene: CPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53211257T= , CM000663.2:g.53211257T= GRCh38
NC_000001.10:g.53676929T= , CM000663.1:g.53676929T= GRCh37
NC_000001.9:g.53449517T= NCBI36
NG_008035.1:g.19829T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.4:c.1583T= MANE Select ENSP00000360541.3:p.Leu528=
ENST00000635862.1:c.1576+7T= ENSP00000490867.1:n.1576+7T=
ENST00000635888.1:c.*1569T= ENSP00000490042.1:n.*1569T=
ENST00000636239.1:c.*1230T= ENSP00000490066.1:n.*1230T=
ENST00000636867.1:c.1576+7T= ENSP00000489631.1:n.1576+7T=
ENST00000636891.1:c.1583T= ENSP00000490399.1:p.Leu528=
ENST00000636935.1:c.341-2007T= ENSP00000489757.1:n.341-2007T=
ENST00000637252.1:c.1583T= ENSP00000490492.1:p.Leu528=
ENST00000637726.1:n.3783T=
ENST00000638135.1:c.*1230T= ENSP00000489756.1:n.*1230T=
ENST00000371486.3:c.1583T= ENSP00000360541.3:p.Leu528=
NM_000098.2:c.1583T= NP_000089.1:p.Leu528=
XM_005270484.1:c.1576+7T= XP_005270541.1:n.1576+7T=
NM_001330589.1:c.1576+7T= NP_001317518.1:n.1576+7T=
NM_000098.3:c.1583T= MANE Select NP_000089.1:p.Leu528=
NM_001330589.2:c.1576+7T= NP_001317518.1:n.1576+7T=