Canonical Allele Identifier: CA22626070

Gene: CPT2

Linked Data

• dbSNP Id: rs542147940
• gnomAD v2: 1-53662375-G-T
• gnomAD v3: 1-53196703-G-T
• gnomAD v4: 1-53196703-G-T
• MyVariant Identifiers: chr1:g.53662375G>T (hg19) ; chr1:g.53196703G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53196703G>T , CM000663.2:g.53196703G>T	GRCh38
NC_000001.10:g.53662375G>T , CM000663.1:g.53662375G>T	GRCh37
NC_000001.9:g.53434963G>T	NCBI36
NG_008035.1:g.5275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371486.3:c.-241G>T	ENSP00000360541.3:n.-241G>T
NM_000098.2:c.-241G>T	NP_000089.1:n.-241G>T
NM_001330589.1:c.-241G>T	NP_001317518.1:n.-241G>T