Canonical Allele Identifier: CA6152354

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1114842
• ClinVar RCV Id: RCV001442694
• dbSNP Id: rs768418242
• ExAC: 11:68549256 G / A
• gnomAD v2: 11-68549256-G-A
• gnomAD v3: 11-68781788-G-A
• gnomAD v4: 11-68781788-G-A
• COSMIC: COSM544933 ; COSM4863107
• MyVariant Identifiers: chr11:g.68549256G>A (hg19) ; chr11:g.68781788G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68781788G>A , CM000673.2:g.68781788G>A	GRCh38
NC_000011.9:g.68549256G>A , CM000673.1:g.68549256G>A	GRCh37
NC_000011.8:g.68305832G>A	NCBI36
NG_011801.1:g.65144C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1335C>T MANE Select	ENSP00000265641.4:p.His445=
ENST00000265641.9:c.1335C>T	ENSP00000265641.4:p.His445=
ENST00000376618.6:c.1335C>T	ENSP00000365803.2:p.His445=
ENST00000539743.5:c.1335C>T	ENSP00000446108.1:p.His445=
ENST00000540367.5:c.1335C>T	ENSP00000439084.1:p.His445=
NM_001031847.2:c.1335C>T	NP_001027017.1:p.His445=
NM_001876.3:c.1335C>T	NP_001867.2:p.His445=
XM_005273762.1:c.1431C>T	XP_005273819.1:p.His477=
XM_005273763.1:c.1431C>T	XP_005273820.1:p.His477=
XM_005273762.3:c.1431C>T	XP_005273819.1:p.His477=
XM_017017220.1:c.1335C>T	XP_016872709.1:p.His445=
NM_001876.4:c.1335C>T MANE Select	NP_001867.2:p.His445=
NM_001031847.3:c.1335C>T	NP_001027017.1:p.His445=