Canonical Allele Identifier: CA381631319

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1349562
• ClinVar RCV Id: RCV002051107
• dbSNP Id: rs2153997915
• gnomAD v4: 11-68781798-G-T
• MyVariant Identifiers: chr11:g.68549266G>T (hg19) ; chr11:g.68781798G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68781798G>T , CM000673.2:g.68781798G>T	GRCh38
NC_000011.9:g.68549266G>T , CM000673.1:g.68549266G>T	GRCh37
NC_000011.8:g.68305842G>T	NCBI36
NG_011801.1:g.65134C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1325C>A MANE Select	ENSP00000265641.4:p.Ser442Tyr
ENST00000265641.9:c.1325C>A	ENSP00000265641.4:p.Ser442Tyr
ENST00000376618.6:c.1325C>A	ENSP00000365803.2:p.Ser442Tyr
ENST00000539743.5:c.1325C>A	ENSP00000446108.1:p.Ser442Tyr
ENST00000540367.5:c.1325C>A	ENSP00000439084.1:p.Ser442Tyr
NM_001031847.2:c.1325C>A	NP_001027017.1:p.Ser442Tyr
NM_001876.3:c.1325C>A	NP_001867.2:p.Ser442Tyr
XM_005273762.1:c.1421C>A	XP_005273819.1:p.Ser474Tyr
XM_005273763.1:c.1421C>A	XP_005273820.1:p.Ser474Tyr
XM_005273762.3:c.1421C>A	XP_005273819.1:p.Ser474Tyr
XM_017017220.1:c.1325C>A	XP_016872709.1:p.Ser442Tyr
NM_001876.4:c.1325C>A MANE Select	NP_001867.2:p.Ser442Tyr
NM_001031847.3:c.1325C>A	NP_001027017.1:p.Ser442Tyr