Canonical Allele Identifier: CA340396868

Gene: CPT2

Linked Data

• gnomAD v4: 1-53211256-C-A
• MyVariant Identifiers: chr1:g.53676928C>A (hg19) ; chr1:g.53211256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211256C>A , CM000663.2:g.53211256C>A	GRCh38
NC_000001.10:g.53676928C>A , CM000663.1:g.53676928C>A	GRCh37
NC_000001.9:g.53449516C>A	NCBI36
NG_008035.1:g.19828C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1582C>A MANE Select	ENSP00000360541.3:p.Leu528Ile
ENST00000635862.1:c.1576+6C>A	ENSP00000490867.1:n.1576+6C>A
ENST00000635888.1:c.*1568C>A	ENSP00000490042.1:n.*1568C>A
ENST00000636239.1:c.*1229C>A	ENSP00000490066.1:n.*1229C>A
ENST00000636867.1:c.1576+6C>A	ENSP00000489631.1:n.1576+6C>A
ENST00000636891.1:c.1582C>A	ENSP00000490399.1:p.Leu528Ile
ENST00000636935.1:c.341-2008C>A	ENSP00000489757.1:n.341-2008C>A
ENST00000637252.1:c.1582C>A	ENSP00000490492.1:p.Leu528Ile
ENST00000637726.1:n.3782C>A
ENST00000638135.1:c.*1229C>A	ENSP00000489756.1:n.*1229C>A
ENST00000371486.3:c.1582C>A	ENSP00000360541.3:p.Leu528Ile
NM_000098.2:c.1582C>A	NP_000089.1:p.Leu528Ile
XM_005270484.1:c.1576+6C>A	XP_005270541.1:n.1576+6C>A
NM_001330589.1:c.1576+6C>A	NP_001317518.1:n.1576+6C>A
NM_000098.3:c.1582C>A MANE Select	NP_000089.1:p.Leu528Ile
NM_001330589.2:c.1576+6C>A	NP_001317518.1:n.1576+6C>A