Canonical Allele Identifier: CA475204752
Gene: CPT1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.68566689A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68799221A>G , CM000673.2:g.68799221A>G GRCh38
NC_000011.9:g.68566689A>G , CM000673.1:g.68566689A>G GRCh37
NC_000011.8:g.68323265A>G NCBI36
NG_011801.1:g.47711T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.690T>C MANE Select ENSP00000265641.4:p.Asn230=
ENST00000265641.9:c.690T>C ENSP00000265641.4:p.Asn230=
ENST00000376618.6:c.690T>C ENSP00000365803.2:p.Asn230=
ENST00000538994.1:c.-55T>C ENSP00000454332.1:n.-55T>C
ENST00000539743.5:c.690T>C ENSP00000446108.1:p.Asn230=
ENST00000540367.5:c.690T>C ENSP00000439084.1:p.Asn230=
NM_001031847.2:c.690T>C NP_001027017.1:p.Asn230=
NM_001876.3:c.690T>C NP_001867.2:p.Asn230=
XM_005273762.1:c.786T>C XP_005273819.1:p.Asn262=
XM_005273763.1:c.786T>C XP_005273820.1:p.Asn262=
XM_005273762.3:c.786T>C XP_005273819.1:p.Asn262=
XM_017017220.1:c.690T>C XP_016872709.1:p.Asn230=
NM_001876.4:c.690T>C MANE Select NP_001867.2:p.Asn230=
NM_001031847.3:c.690T>C NP_001027017.1:p.Asn230=