Canonical Allele Identifier: CA736875841
Gene: CPT2 HGNC NCBI

Linked Data

dbSNP Id: rs1389130427
gnomAD v4: 1-53196689-A-T
MyVariant Identifiers: chr1:g.53662361A>T (hg19) chr1:g.53196689A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.53196689A>T , CM000663.2:g.53196689A>T GRCh38
NC_000001.10:g.53662361A>T , CM000663.1:g.53662361A>T GRCh37
NC_000001.9:g.53434949A>T NCBI36
NG_008035.1:g.5261A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371486.3:c.-255A>T ENSP00000360541.3:n.-255A>T
NM_000098.2:c.-255A>T NP_000089.1:n.-255A>T
NM_001330589.1:c.-255A>T NP_001317518.1:n.-255A>T
Search 100 bp 5'
Search 100 bp 3'