Canonical Allele Identifier: CA3182841596
Community Standard Title: NM_001876.4(CPT1A):c.2071C= (p.Gln691=)
Gene: CPT1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68760296G= , CM000673.2:g.68760296G= GRCh38
NC_000011.9:g.68527764G= , CM000673.1:g.68527764G= GRCh37
NC_000011.8:g.68284340G= NCBI36
NG_011801.1:g.86636C=

Transcript Alleles

HGVS Amino-acid Change
NM_001876.4:c.2071C= MANE Select NP_001867.2:p.Gln691=
ENST00000265641.10:c.2071C= MANE Select ENSP00000265641.4:p.Gln691=
NM_001031847.2:c.2071C= NP_001027017.1:p.Gln691=
NM_001031847.3:c.2071C= NP_001027017.1:p.Gln691=
NM_001876.3:c.2071C= NP_001867.2:p.Gln691=
ENST00000265641.9:c.2071C= ENSP00000265641.4:p.Gln691=
ENST00000376618.6:c.2071C= ENSP00000365803.2:p.Gln691=
ENST00000539743.5:c.2071C= ENSP00000446108.1:p.Gln691=
ENST00000540367.5:c.2071C= ENSP00000439084.1:p.Gln691=
XM_005273762.1:c.2167C= XP_005273819.1:p.Gln723=
XM_005273762.3:c.2167C= XP_005273819.1:p.Gln723=
XM_005273763.1:c.2167C= XP_005273820.1:p.Gln723=
XM_017017220.1:c.2071C= XP_016872709.1:p.Gln691=