Canonical Allele Identifier: CA736875748

Gene: CPT2

Linked Data

• dbSNP Id: rs1248026937
• gnomAD v3: 1-53196647-C-T
• gnomAD v4: 1-53196647-C-T
• MyVariant Identifiers: chr1:g.53662319C>T (hg19) ; chr1:g.53196647C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196647C>T , CM000663.2:g.53196647C>T	GRCh38
NC_000001.10:g.53662319C>T , CM000663.1:g.53662319C>T	GRCh37
NC_000001.9:g.53434907C>T	NCBI36
NG_008035.1:g.5219C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.3:c.-297C>T	ENSP00000360541.3:n.-297C>T
NM_000098.2:c.-297C>T	NP_000089.1:n.-297C>T
NM_001330589.1:c.-297C>T	NP_001317518.1:n.-297C>T