Canonical Allele Identifier: CA417875172

Gene: CPT2

Linked Data

• ClinVar Variation Id: 2153974
• ClinVar RCV Id: RCV003081555
• dbSNP Id: rs1645421952
• gnomAD v3: 1-53210943-A-G
• gnomAD v4: 1-53210943-A-G
• MyVariant Identifiers: chr1:g.53676615A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210943A>G , CM000663.2:g.53210943A>G	GRCh38
NC_000001.10:g.53676615A>G , CM000663.1:g.53676615A>G	GRCh37
NC_000001.9:g.53449203A>G	NCBI36
NG_008035.1:g.19515A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.1269A>G MANE Select	ENSP00000360541.3:p.Leu423=
ENST00000635862.1:c.1269A>G	ENSP00000490867.1:p.Leu423=
ENST00000635888.1:c.*1255A>G	ENSP00000490042.1:n.*1255A>G
ENST00000636239.1:c.*916A>G	ENSP00000490066.1:n.*916A>G
ENST00000636867.1:c.1269A>G	ENSP00000489631.1:p.Leu423=
ENST00000636891.1:c.1269A>G	ENSP00000490399.1:p.Leu423=
ENST00000636935.1:c.341-2321A>G	ENSP00000489757.1:n.341-2321A>G
ENST00000637252.1:c.1269A>G	ENSP00000490492.1:p.Leu423=
ENST00000637726.1:n.3469A>G
ENST00000638135.1:c.*916A>G	ENSP00000489756.1:n.*916A>G
ENST00000371486.3:c.1269A>G	ENSP00000360541.3:p.Leu423=
NM_000098.2:c.1269A>G	NP_000089.1:p.Leu423=
XM_005270484.1:c.1269A>G	XP_005270541.1:p.Leu423=
NM_001330589.1:c.1269A>G	NP_001317518.1:p.Leu423=
NM_000098.3:c.1269A>G MANE Select	NP_000089.1:p.Leu423=
NM_001330589.2:c.1269A>G	NP_001317518.1:p.Leu423=