Canonical Allele Identifier: CA2573147673

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1456414
• ClinVar RCV Id: RCV001951139
• dbSNP Id: rs2153994995

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68761579dup , CM000673.2:g.68761579dup	GRCh38
NC_000011.9:g.68529047dup , CM000673.1:g.68529047dup	GRCh37
NC_000011.8:g.68285623dup	NCBI36
NG_011801.1:g.85353dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.1984dup MANE Select	ENSP00000265641.4:p.Val662GlyfsTer4
ENST00000265641.9:c.1984dup	ENSP00000265641.4:p.Val662GlyfsTer4
ENST00000376618.6:c.1984dup	ENSP00000365803.2:p.Val662GlyfsTer4
ENST00000539743.5:c.1984dup	ENSP00000446108.1:p.Val662GlyfsTer4
ENST00000540367.5:c.1984dup	ENSP00000439084.1:p.Val662GlyfsTer4
NM_001031847.2:c.1984dup	NP_001027017.1:p.Val662GlyfsTer4
NM_001876.3:c.1984dup	NP_001867.2:p.Val662GlyfsTer4
XM_005273762.1:c.2080dup	XP_005273819.1:p.Val694GlyfsTer4
XM_005273763.1:c.2080dup	XP_005273820.1:p.Val694GlyfsTer4
XM_005273762.3:c.2080dup	XP_005273819.1:p.Val694GlyfsTer4
XM_017017220.1:c.1984dup	XP_016872709.1:p.Val662GlyfsTer4
NM_001876.4:c.1984dup MANE Select	NP_001867.2:p.Val662GlyfsTer4
NM_001031847.3:c.1984dup	NP_001027017.1:p.Val662GlyfsTer4