Canonical Allele Identifier: CA522907680

Gene: CPT2

Linked Data

• dbSNP Id: rs1276061065
• gnomAD v2: 1-53662368-A-C
• gnomAD v3: 1-53196696-A-C
• gnomAD v4: 1-53196696-A-C
• MyVariant Identifiers: chr1:g.53662368A>C (hg19) ; chr1:g.53196696A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196696A>C , CM000663.2:g.53196696A>C	GRCh38
NC_000001.10:g.53662368A>C , CM000663.1:g.53662368A>C	GRCh37
NC_000001.9:g.53434956A>C	NCBI36
NG_008035.1:g.5268A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.3:c.-248A>C	ENSP00000360541.3:n.-248A>C
NM_000098.2:c.-248A>C	NP_000089.1:n.-248A>C
NM_001330589.1:c.-248A>C	NP_001317518.1:n.-248A>C