Canonical Allele Identifier: CA381633383

Gene: CPT1A

Linked Data

• dbSNP Id: rs780010094
• gnomAD v4: 11-68784930-C-G
• MyVariant Identifiers: chr11:g.68552398C>G (hg19) ; chr11:g.68784930C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68784930C>G , CM000673.2:g.68784930C>G	GRCh38
NC_000011.9:g.68552398C>G , CM000673.1:g.68552398C>G	GRCh37
NC_000011.8:g.68308974C>G	NCBI36
NG_011801.1:g.62002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1048G>C MANE Select	ENSP00000265641.4:p.Asp350His
ENST00000265641.9:c.1048G>C	ENSP00000265641.4:p.Asp350His
ENST00000376618.6:c.1048G>C	ENSP00000365803.2:p.Asp350His
ENST00000539743.5:c.1048G>C	ENSP00000446108.1:p.Asp350His
ENST00000540367.5:c.1048G>C	ENSP00000439084.1:p.Asp350His
NM_001031847.2:c.1048G>C	NP_001027017.1:p.Asp350His
NM_001876.3:c.1048G>C	NP_001867.2:p.Asp350His
XM_005273762.1:c.1144G>C	XP_005273819.1:p.Asp382His
XM_005273763.1:c.1144G>C	XP_005273820.1:p.Asp382His
XM_005273762.3:c.1144G>C	XP_005273819.1:p.Asp382His
XM_017017220.1:c.1048G>C	XP_016872709.1:p.Asp350His
NM_001876.4:c.1048G>C MANE Select	NP_001867.2:p.Asp350His
NM_001031847.3:c.1048G>C	NP_001027017.1:p.Asp350His