Canonical Allele Identifier: CA2497319441
Gene: CPT1A HGNC NCBI

Linked Data

dbSNP Id: rs1335393706

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68759405_68759408dup , CM000673.2:g.68759405_68759408dup GRCh38
NC_000011.9:g.68526873_68526876dup , CM000673.1:g.68526873_68526876dup GRCh37
NC_000011.8:g.68283449_68283452dup NCBI36
NG_011801.1:g.87533_87536dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000265641.10:c.2235+170_2235+173dup MANE Select ENSP00000265641.4:n.2235+170_2235+173dup
ENST00000265641.9:c.2235+170_2235+173dup ENSP00000265641.4:n.2235+170_2235+173dup
ENST00000376618.6:c.2235+170_2235+173dup ENSP00000365803.2:n.2235+170_2235+173dup
ENST00000539743.5:c.2235+170_2235+173dup ENSP00000446108.1:n.2235+170_2235+173dup
ENST00000540367.5:c.2235+170_2235+173dup ENSP00000439084.1:n.2235+170_2235+173dup
NM_001031847.2:c.2235+170_2235+173dup NP_001027017.1:n.2235+170_2235+173dup
NM_001876.3:c.2235+170_2235+173dup NP_001867.2:n.2235+170_2235+173dup
XM_005273762.1:c.2331+170_2331+173dup XP_005273819.1:n.2331+170_2331+173dup
XM_005273763.1:c.2331+170_2331+173dup XP_005273820.1:n.2331+170_2331+173dup
XM_005273762.3:c.2331+170_2331+173dup XP_005273819.1:n.2331+170_2331+173dup
XM_017017220.1:c.2235+170_2235+173dup XP_016872709.1:n.2235+170_2235+173dup
NM_001876.4:c.2235+170_2235+173dup MANE Select NP_001867.2:n.2235+170_2235+173dup
NM_001031847.3:c.2235+170_2235+173dup NP_001027017.1:n.2235+170_2235+173dup