Canonical Allele Identifier: CA475205437

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1550297
• ClinVar RCV Id: RCV002175380
• dbSNP Id: rs1462501450
• gnomAD v3: 11-68804036-G-T
• gnomAD v4: 11-68804036-G-T
• MyVariant Identifiers: chr11:g.68571504G>T (hg19) ; chr11:g.68804036G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68804036G>T , CM000673.2:g.68804036G>T	GRCh38
NC_000011.9:g.68571504G>T , CM000673.1:g.68571504G>T	GRCh37
NC_000011.8:g.68328080G>T	NCBI36
NG_011801.1:g.42896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.519C>A MANE Select	ENSP00000265641.4:p.Arg173=
ENST00000265641.9:c.519C>A	ENSP00000265641.4:p.Arg173=
ENST00000376618.6:c.519C>A	ENSP00000365803.2:p.Arg173=
ENST00000539743.5:c.519C>A	ENSP00000446108.1:p.Arg173=
ENST00000540367.5:c.519C>A	ENSP00000439084.1:p.Arg173=
NM_001031847.2:c.519C>A	NP_001027017.1:p.Arg173=
NM_001876.3:c.519C>A	NP_001867.2:p.Arg173=
XM_005273762.1:c.615C>A	XP_005273819.1:p.Arg205=
XM_005273763.1:c.615C>A	XP_005273820.1:p.Arg205=
XM_005273762.3:c.615C>A	XP_005273819.1:p.Arg205=
XM_017017220.1:c.519C>A	XP_016872709.1:p.Arg173=
NM_001876.4:c.519C>A MANE Select	NP_001867.2:p.Arg173=
NM_001031847.3:c.519C>A	NP_001027017.1:p.Arg173=