Canonical Allele Identifier: CA2497319448
Gene: CPT1A HGNC NCBI

Linked Data

dbSNP Id: rs1946775378

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68760147_68760163dup , CM000673.2:g.68760147_68760163dup GRCh38
NC_000011.9:g.68527615_68527631dup , CM000673.1:g.68527615_68527631dup GRCh37
NC_000011.8:g.68284191_68284207dup NCBI36
NG_011801.1:g.86772_86788dup

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.2142+65_2142+81dup MANE Select ENSP00000265641.4:n.2142+65_2142+81dup
ENST00000265641.9:c.2142+65_2142+81dup ENSP00000265641.4:n.2142+65_2142+81dup
ENST00000376618.6:c.2142+65_2142+81dup ENSP00000365803.2:n.2142+65_2142+81dup
ENST00000539743.5:c.2142+65_2142+81dup ENSP00000446108.1:n.2142+65_2142+81dup
ENST00000540367.5:c.2142+65_2142+81dup ENSP00000439084.1:n.2142+65_2142+81dup
NM_001031847.2:c.2142+65_2142+81dup NP_001027017.1:n.2142+65_2142+81dup
NM_001876.3:c.2142+65_2142+81dup NP_001867.2:n.2142+65_2142+81dup
XM_005273762.1:c.2238+65_2238+81dup XP_005273819.1:n.2238+65_2238+81dup
XM_005273763.1:c.2238+65_2238+81dup XP_005273820.1:n.2238+65_2238+81dup
XM_005273762.3:c.2238+65_2238+81dup XP_005273819.1:n.2238+65_2238+81dup
XM_017017220.1:c.2142+65_2142+81dup XP_016872709.1:n.2142+65_2142+81dup
NM_001876.4:c.2142+65_2142+81dup MANE Select NP_001867.2:n.2142+65_2142+81dup
NM_001031847.3:c.2142+65_2142+81dup NP_001027017.1:n.2142+65_2142+81dup