Canonical Allele Identifier: CA381638012
Gene: CPT1A HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68812496G>C , CM000673.2:g.68812496G>C GRCh38
NC_000011.9:g.68579964G>C , CM000673.1:g.68579964G>C GRCh37
NC_000011.8:g.68336540G>C NCBI36
NG_011801.1:g.34436C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.222C>G MANE Select ENSP00000265641.4:p.Tyr74Ter
ENST00000265641.9:c.222C>G ENSP00000265641.4:p.Tyr74Ter
ENST00000376618.6:c.222C>G ENSP00000365803.2:p.Tyr74Ter
ENST00000539743.5:c.222C>G ENSP00000446108.1:p.Tyr74Ter
ENST00000540367.5:c.222C>G ENSP00000439084.1:p.Tyr74Ter
ENST00000561996.1:c.222C>G ENSP00000457663.1:p.Tyr74Ter
ENST00000565318.5:c.222C>G ENSP00000457826.1:p.Tyr74Ter
ENST00000569129.5:c.222C>G ENSP00000455116.1:p.Tyr74Ter
NM_001031847.2:c.222C>G NP_001027017.1:p.Tyr74Ter
NM_001876.3:c.222C>G NP_001867.2:p.Tyr74Ter
XM_005273762.1:c.318C>G XP_005273819.1:p.Tyr106Ter
XM_005273763.1:c.318C>G XP_005273820.1:p.Tyr106Ter
XM_005273762.3:c.318C>G XP_005273819.1:p.Tyr106Ter
XM_017017220.1:c.222C>G XP_016872709.1:p.Tyr74Ter
NM_001876.4:c.222C>G MANE Select NP_001867.2:p.Tyr74Ter
NM_001031847.3:c.222C>G NP_001027017.1:p.Tyr74Ter