Canonical Allele Identifier: CA859188

Gene: CPT2

Linked Data

• ClinVar Variation Id: 728394
• ClinVar RCV Id: RCV000902871
• dbSNP Id: rs201681645
• ExAC: 1:53676738 C / T
• gnomAD v2: 1-53676738-C-T
• gnomAD v3: 1-53211066-C-T
• gnomAD v4: 1-53211066-C-T
• MyVariant Identifiers: chr1:g.53676738C>T (hg19) ; chr1:g.53211066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53211066C>T , CM000663.2:g.53211066C>T	GRCh38
NC_000001.10:g.53676738C>T , CM000663.1:g.53676738C>T	GRCh37
NC_000001.9:g.53449326C>T	NCBI36
NG_008035.1:g.19638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.1392C>T MANE Select	ENSP00000360541.3:p.Asp464=
ENST00000635862.1:c.1392C>T	ENSP00000490867.1:p.Asp464=
ENST00000635888.1:c.*1378C>T	ENSP00000490042.1:n.*1378C>T
ENST00000636239.1:c.*1039C>T	ENSP00000490066.1:n.*1039C>T
ENST00000636867.1:c.1392C>T	ENSP00000489631.1:p.Asp464=
ENST00000636891.1:c.1392C>T	ENSP00000490399.1:p.Asp464=
ENST00000636935.1:c.341-2198C>T	ENSP00000489757.1:n.341-2198C>T
ENST00000637252.1:c.1392C>T	ENSP00000490492.1:p.Asp464=
ENST00000637726.1:n.3592C>T
ENST00000638135.1:c.*1039C>T	ENSP00000489756.1:n.*1039C>T
ENST00000371486.3:c.1392C>T	ENSP00000360541.3:p.Asp464=
NM_000098.2:c.1392C>T	NP_000089.1:p.Asp464=
XM_005270484.1:c.1392C>T	XP_005270541.1:p.Asp464=
NM_001330589.1:c.1392C>T	NP_001317518.1:p.Asp464=
NM_000098.3:c.1392C>T MANE Select	NP_000089.1:p.Asp464=
NM_001330589.2:c.1392C>T	NP_001317518.1:p.Asp464=