Canonical Allele Identifier: CA340396862

Gene: CPT2

Linked Data

• dbSNP Id: rs1306249124
• gnomAD v2: 1-53676925-G-A
• gnomAD v4: 1-53211253-G-A
• MyVariant Identifiers: chr1:g.53676925G>A (hg19) ; chr1:g.53211253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211253G>A , CM000663.2:g.53211253G>A	GRCh38
NC_000001.10:g.53676925G>A , CM000663.1:g.53676925G>A	GRCh37
NC_000001.9:g.53449513G>A	NCBI36
NG_008035.1:g.19825G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1579G>A MANE Select	ENSP00000360541.3:p.Glu527Lys
ENST00000635862.1:c.1576+3G>A	ENSP00000490867.1:n.1576+3G>A
ENST00000635888.1:c.*1565G>A	ENSP00000490042.1:n.*1565G>A
ENST00000636239.1:c.*1226G>A	ENSP00000490066.1:n.*1226G>A
ENST00000636867.1:c.1576+3G>A	ENSP00000489631.1:n.1576+3G>A
ENST00000636891.1:c.1579G>A	ENSP00000490399.1:p.Glu527Lys
ENST00000636935.1:c.341-2011G>A	ENSP00000489757.1:n.341-2011G>A
ENST00000637252.1:c.1579G>A	ENSP00000490492.1:p.Glu527Lys
ENST00000637726.1:n.3779G>A
ENST00000638135.1:c.*1226G>A	ENSP00000489756.1:n.*1226G>A
ENST00000371486.3:c.1579G>A	ENSP00000360541.3:p.Glu527Lys
NM_000098.2:c.1579G>A	NP_000089.1:p.Glu527Lys
XM_005270484.1:c.1576+3G>A	XP_005270541.1:n.1576+3G>A
NM_001330589.1:c.1576+3G>A	NP_001317518.1:n.1576+3G>A
NM_000098.3:c.1579G>A MANE Select	NP_000089.1:p.Glu527Lys
NM_001330589.2:c.1576+3G>A	NP_001317518.1:n.1576+3G>A