Canonical Allele Identifier: CA2497319442

Gene: CPT1A

Linked Data

• dbSNP Id: rs1946757592

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68759400_68759401insC , CM000673.2:g.68759400_68759401insC	GRCh38
NC_000011.9:g.68526868_68526869insC , CM000673.1:g.68526868_68526869insC	GRCh37
NC_000011.8:g.68283444_68283445insC	NCBI36
NG_011801.1:g.87531_87532insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.2235+168_2235+169insG MANE Select	ENSP00000265641.4:n.2235+168_2235+169insG
ENST00000265641.9:c.2235+168_2235+169insG	ENSP00000265641.4:n.2235+168_2235+169insG
ENST00000376618.6:c.2235+168_2235+169insG	ENSP00000365803.2:n.2235+168_2235+169insG
ENST00000539743.5:c.2235+168_2235+169insG	ENSP00000446108.1:n.2235+168_2235+169insG
ENST00000540367.5:c.2235+168_2235+169insG	ENSP00000439084.1:n.2235+168_2235+169insG
NM_001031847.2:c.2235+168_2235+169insG	NP_001027017.1:n.2235+168_2235+169insG
NM_001876.3:c.2235+168_2235+169insG	NP_001867.2:n.2235+168_2235+169insG
XM_005273762.1:c.2331+168_2331+169insG	XP_005273819.1:n.2331+168_2331+169insG
XM_005273763.1:c.2331+168_2331+169insG	XP_005273820.1:n.2331+168_2331+169insG
XM_005273762.3:c.2331+168_2331+169insG	XP_005273819.1:n.2331+168_2331+169insG
XM_017017220.1:c.2235+168_2235+169insG	XP_016872709.1:n.2235+168_2235+169insG
NM_001876.4:c.2235+168_2235+169insG MANE Select	NP_001867.2:n.2235+168_2235+169insG
NM_001031847.3:c.2235+168_2235+169insG	NP_001027017.1:n.2235+168_2235+169insG