Canonical Allele Identifier: CA340393352

Gene: CPT2

Linked Data

• dbSNP Id: rs1645414909
• gnomAD v3: 1-53210374-C-T
• gnomAD v4: 1-53210374-C-T
• MyVariant Identifiers: chr1:g.53676046C>T (hg19) ; chr1:g.53210374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53210374C>T , CM000663.2:g.53210374C>T	GRCh38
NC_000001.10:g.53676046C>T , CM000663.1:g.53676046C>T	GRCh37
NC_000001.9:g.53448634C>T	NCBI36
NG_008035.1:g.18946C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.4:c.700C>T MANE Select	ENSP00000360541.3:p.Leu234Phe
ENST00000635862.1:c.700C>T	ENSP00000490867.1:p.Leu234Phe
ENST00000635888.1:c.*686C>T	ENSP00000490042.1:n.*686C>T
ENST00000636239.1:c.*347C>T	ENSP00000490066.1:n.*347C>T
ENST00000636867.1:c.700C>T	ENSP00000489631.1:p.Leu234Phe
ENST00000636891.1:c.700C>T	ENSP00000490399.1:p.Leu234Phe
ENST00000636935.1:c.341-2890C>T	ENSP00000489757.1:n.341-2890C>T
ENST00000637252.1:c.700C>T	ENSP00000490492.1:p.Leu234Phe
ENST00000637726.1:n.2900C>T
ENST00000638135.1:c.*347C>T	ENSP00000489756.1:n.*347C>T
ENST00000371486.3:c.700C>T	ENSP00000360541.3:p.Leu234Phe
NM_000098.2:c.700C>T	NP_000089.1:p.Leu234Phe
XM_005270484.1:c.700C>T	XP_005270541.1:p.Leu234Phe
NM_001330589.1:c.700C>T	NP_001317518.1:p.Leu234Phe
NM_000098.3:c.700C>T MANE Select	NP_000089.1:p.Leu234Phe
NM_001330589.2:c.700C>T	NP_001317518.1:p.Leu234Phe