Canonical Allele Identifier: CA939202322

Gene: CPT1A

Linked Data

• dbSNP Id: rs1855665663
• gnomAD v3: 11-68793263-T-C
• gnomAD v4: 11-68793263-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68793263T>C , CM000673.2:g.68793263T>C	GRCh38
NC_000011.9:g.68560731T>C , CM000673.1:g.68560731T>C	GRCh37
NC_000011.8:g.68317307T>C	NCBI36
NG_011801.1:g.53669A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.967+52A>G MANE Select	ENSP00000265641.4:n.967+52A>G
ENST00000265641.9:c.967+52A>G	ENSP00000265641.4:n.967+52A>G
ENST00000376618.6:c.967+52A>G	ENSP00000365803.2:n.967+52A>G
ENST00000538994.1:c.223+52A>G	ENSP00000454332.1:n.223+52A>G
ENST00000539743.5:c.967+52A>G	ENSP00000446108.1:n.967+52A>G
ENST00000540367.5:c.967+52A>G	ENSP00000439084.1:n.967+52A>G
NM_001031847.2:c.967+52A>G	NP_001027017.1:n.967+52A>G
NM_001876.3:c.967+52A>G	NP_001867.2:n.967+52A>G
XM_005273762.1:c.1063+52A>G	XP_005273819.1:n.1063+52A>G
XM_005273763.1:c.1063+52A>G	XP_005273820.1:n.1063+52A>G
XM_005273762.3:c.1063+52A>G	XP_005273819.1:n.1063+52A>G
XM_017017220.1:c.967+52A>G	XP_016872709.1:n.967+52A>G
NM_001876.4:c.967+52A>G MANE Select	NP_001867.2:n.967+52A>G
NM_001031847.3:c.967+52A>G	NP_001027017.1:n.967+52A>G