Canonical Allele Identifier: CA859043

Gene: CPT2

Linked Data

• ClinVar Variation Id: 529868
• ClinVar RCV Id: RCV000635375
• dbSNP Id: rs746853000
• ExAC: 1:53676105 C / T
• gnomAD v2: 1-53676105-C-T
• gnomAD v3: 1-53210433-C-T
• gnomAD v4: 1-53210433-C-T
• MyVariant Identifiers: chr1:g.53676105C>T (hg19) ; chr1:g.53210433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210433C>T , CM000663.2:g.53210433C>T	GRCh38
NC_000001.10:g.53676105C>T , CM000663.1:g.53676105C>T	GRCh37
NC_000001.9:g.53448693C>T	NCBI36
NG_008035.1:g.19005C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371486.4:c.759C>T MANE Select	ENSP00000360541.3:p.Ile253=
ENST00000635862.1:c.759C>T	ENSP00000490867.1:p.Ile253=
ENST00000635888.1:c.*745C>T	ENSP00000490042.1:n.*745C>T
ENST00000636239.1:c.*406C>T	ENSP00000490066.1:n.*406C>T
ENST00000636867.1:c.759C>T	ENSP00000489631.1:p.Ile253=
ENST00000636891.1:c.759C>T	ENSP00000490399.1:p.Ile253=
ENST00000636935.1:c.341-2831C>T	ENSP00000489757.1:n.341-2831C>T
ENST00000637252.1:c.759C>T	ENSP00000490492.1:p.Ile253=
ENST00000637726.1:n.2959C>T
ENST00000638135.1:c.*406C>T	ENSP00000489756.1:n.*406C>T
ENST00000371486.3:c.759C>T	ENSP00000360541.3:p.Ile253=
NM_000098.2:c.759C>T	NP_000089.1:p.Ile253=
XM_005270484.1:c.759C>T	XP_005270541.1:p.Ile253=
NM_001330589.1:c.759C>T	NP_001317518.1:p.Ile253=
NM_000098.3:c.759C>T MANE Select	NP_000089.1:p.Ile253=
NM_001330589.2:c.759C>T	NP_001317518.1:p.Ile253=