Canonical Allele Identifier: CA223400598

Gene: CPT1A

Linked Data

• dbSNP Id: rs1026272645
• gnomAD v3: 11-68812631-T-C
• gnomAD v4: 11-68812631-T-C
• MyVariant Identifiers: chr11:g.68580099T>C (hg19) ; chr11:g.68812631T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68812631T>C , CM000673.2:g.68812631T>C	GRCh38
NC_000011.9:g.68580099T>C , CM000673.1:g.68580099T>C	GRCh37
NC_000011.8:g.68336675T>C	NCBI36
NG_011801.1:g.34301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.142-55A>G MANE Select	ENSP00000265641.4:n.142-55A>G
ENST00000265641.9:c.142-55A>G	ENSP00000265641.4:n.142-55A>G
ENST00000376618.6:c.142-55A>G	ENSP00000365803.2:n.142-55A>G
ENST00000539743.5:c.142-55A>G	ENSP00000446108.1:n.142-55A>G
ENST00000540367.5:c.142-55A>G	ENSP00000439084.1:n.142-55A>G
ENST00000561996.1:c.142-55A>G	ENSP00000457663.1:n.142-55A>G
ENST00000565318.5:c.142-55A>G	ENSP00000457826.1:n.142-55A>G
ENST00000569129.5:c.142-55A>G	ENSP00000455116.1:n.142-55A>G
NM_001031847.2:c.142-55A>G	NP_001027017.1:n.142-55A>G
NM_001876.3:c.142-55A>G	NP_001867.2:n.142-55A>G
XM_005273762.1:c.238-55A>G	XP_005273819.1:n.238-55A>G
XM_005273763.1:c.238-55A>G	XP_005273820.1:n.238-55A>G
XM_005273762.3:c.238-55A>G	XP_005273819.1:n.238-55A>G
XM_017017220.1:c.142-55A>G	XP_016872709.1:n.142-55A>G
NM_001876.4:c.142-55A>G MANE Select	NP_001867.2:n.142-55A>G
NM_001031847.3:c.142-55A>G	NP_001027017.1:n.142-55A>G