Canonical Allele Identifier: CA939176448

Gene: CPT1A

Linked Data

• dbSNP Id: rs1855330276
• gnomAD v3: 11-68782144-C-T
• gnomAD v4: 11-68782144-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68782144C>T , CM000673.2:g.68782144C>T	GRCh38
NC_000011.9:g.68549612C>T , CM000673.1:g.68549612C>T	GRCh37
NC_000011.8:g.68306188C>T	NCBI36
NG_011801.1:g.64788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1164-185G>A MANE Select	ENSP00000265641.4:n.1164-185G>A
ENST00000265641.9:c.1164-185G>A	ENSP00000265641.4:n.1164-185G>A
ENST00000376618.6:c.1164-185G>A	ENSP00000365803.2:n.1164-185G>A
ENST00000539743.5:c.1164-185G>A	ENSP00000446108.1:n.1164-185G>A
ENST00000540367.5:c.1164-185G>A	ENSP00000439084.1:n.1164-185G>A
NM_001031847.2:c.1164-185G>A	NP_001027017.1:n.1164-185G>A
NM_001876.3:c.1164-185G>A	NP_001867.2:n.1164-185G>A
XM_005273762.1:c.1260-185G>A	XP_005273819.1:n.1260-185G>A
XM_005273763.1:c.1260-185G>A	XP_005273820.1:n.1260-185G>A
XM_005273762.3:c.1260-185G>A	XP_005273819.1:n.1260-185G>A
XM_017017220.1:c.1164-185G>A	XP_016872709.1:n.1164-185G>A
NM_001876.4:c.1164-185G>A MANE Select	NP_001867.2:n.1164-185G>A
NM_001031847.3:c.1164-185G>A	NP_001027017.1:n.1164-185G>A