Canonical Allele Identifier: CA22626168

Gene: CPT2

Linked Data

• dbSNP Id: rs988107639
• gnomAD v2: 1-53662430-T-A
• gnomAD v3: 1-53196758-T-A
• gnomAD v4: 1-53196758-T-A
• MyVariant Identifiers: chr1:g.53662430T>A (hg19) ; chr1:g.53196758T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196758T>A , CM000663.2:g.53196758T>A	GRCh38
NC_000001.10:g.53662430T>A , CM000663.1:g.53662430T>A	GRCh37
NC_000001.9:g.53435018T>A	NCBI36
NG_008035.1:g.5330T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.3:c.-186T>A	ENSP00000360541.3:n.-186T>A
NM_000098.2:c.-186T>A	NP_000089.1:n.-186T>A
NM_001330589.1:c.-186T>A	NP_001317518.1:n.-186T>A