Canonical Allele Identifier: CA381625784

Gene: CPT1A

Linked Data

• dbSNP Id: rs1217543321
• gnomAD v3: 11-68760247-G-C
• gnomAD v4: 11-68760247-G-C
• MyVariant Identifiers: chr11:g.68527715G>C (hg19) ; chr11:g.68760247G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68760247G>C , CM000673.2:g.68760247G>C	GRCh38
NC_000011.9:g.68527715G>C , CM000673.1:g.68527715G>C	GRCh37
NC_000011.8:g.68284291G>C	NCBI36
NG_011801.1:g.86685C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.2120C>G MANE Select	ENSP00000265641.4:p.Ser707Cys
ENST00000265641.9:c.2120C>G	ENSP00000265641.4:p.Ser707Cys
ENST00000376618.6:c.2120C>G	ENSP00000365803.2:p.Ser707Cys
ENST00000539743.5:c.2120C>G	ENSP00000446108.1:p.Ser707Cys
ENST00000540367.5:c.2120C>G	ENSP00000439084.1:p.Ser707Cys
NM_001031847.2:c.2120C>G	NP_001027017.1:p.Ser707Cys
NM_001876.3:c.2120C>G	NP_001867.2:p.Ser707Cys
XM_005273762.1:c.2216C>G	XP_005273819.1:p.Ser739Cys
XM_005273763.1:c.2216C>G	XP_005273820.1:p.Ser739Cys
XM_005273762.3:c.2216C>G	XP_005273819.1:p.Ser739Cys
XM_017017220.1:c.2120C>G	XP_016872709.1:p.Ser707Cys
NM_001876.4:c.2120C>G MANE Select	NP_001867.2:p.Ser707Cys
NM_001031847.3:c.2120C>G	NP_001027017.1:p.Ser707Cys