Canonical Allele Identifier: CA2520701639
Gene: CPT1A HGNC NCBI

Linked Data

dbSNP Id: rs1854614970

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68761518A>C , CM000673.2:g.68761518A>C GRCh38
NC_000011.9:g.68528986A>C , CM000673.1:g.68528986A>C GRCh37
NC_000011.8:g.68285562A>C NCBI36
NG_011801.1:g.85414T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.2028+17T>G MANE Select ENSP00000265641.4:n.2028+17T>G
ENST00000265641.9:c.2028+17T>G ENSP00000265641.4:n.2028+17T>G
ENST00000376618.6:c.2028+17T>G ENSP00000365803.2:n.2028+17T>G
ENST00000539743.5:c.2028+17T>G ENSP00000446108.1:n.2028+17T>G
ENST00000540367.5:c.2028+17T>G ENSP00000439084.1:n.2028+17T>G
NM_001031847.2:c.2028+17T>G NP_001027017.1:n.2028+17T>G
NM_001876.3:c.2028+17T>G NP_001867.2:n.2028+17T>G
XM_005273762.1:c.2124+17T>G XP_005273819.1:n.2124+17T>G
XM_005273763.1:c.2124+17T>G XP_005273820.1:n.2124+17T>G
XM_005273762.3:c.2124+17T>G XP_005273819.1:n.2124+17T>G
XM_017017220.1:c.2028+17T>G XP_016872709.1:n.2028+17T>G
NM_001876.4:c.2028+17T>G MANE Select NP_001867.2:n.2028+17T>G
NM_001031847.3:c.2028+17T>G NP_001027017.1:n.2028+17T>G