Canonical Allele Identifier: CA16041542
Gene: CPT1A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371611
ClinVar RCV Id: RCV000409157

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68799217C>G , CM000673.2:g.68799217C>G GRCh38
NC_000011.9:g.68566685C>G , CM000673.1:g.68566685C>G GRCh37
NC_000011.8:g.68323261C>G NCBI36
NG_011801.1:g.47715G>C

Transcript Alleles

HGVS Amino-acid change
NM_001031847.2:c.693+1G>C VV NP_001027017.1:p.=
NM_001876.3:c.693+1G>C VV NP_001867.2:p.=
XM_005273762.1:c.789+1G>C XP_005273819.1:p.=
XM_005273763.1:c.789+1G>C XP_005273820.1:p.=
XM_005273762.3:c.789+1G>C
XM_017017220.1:c.693+1G>C XP_016872709.1:p.=
NM_001876.4:c.693+1G>C VV MANE Preferred
ENST00000265641.9:c.693+1G>C ENSP00000265641.4:p.=
ENST00000376618.6:c.693+1G>C ENSP00000365803.2:p.=
ENST00000538994.1:c.-52+1G>C ENSP00000454332.1:p.=
ENST00000539743.5:c.693+1G>C ENSP00000446108.1:p.=
ENST00000540367.5:c.693+1G>C ENSP00000439084.1:p.=