Canonical Allele Identifier: CA16041535

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 370557
• ClinVar RCV Id: RCV000409010
• dbSNP Id: rs1057516586
• gnomAD v4: 11-68773294-G-A
• MyVariant Identifiers: chr11:g.68540762G>A (hg19) ; chr11:g.68773294G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68773294G>A , CM000673.2:g.68773294G>A	GRCh38
NC_000011.9:g.68540762G>A , CM000673.1:g.68540762G>A	GRCh37
NC_000011.8:g.68297338G>A	NCBI36
NG_011801.1:g.73638C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.1711C>T MANE Select	ENSP00000265641.4:p.Gln571Ter
ENST00000265641.9:c.1711C>T	ENSP00000265641.4:p.Gln571Ter
ENST00000376618.6:c.1711C>T	ENSP00000365803.2:p.Gln571Ter
ENST00000537756.2:n.421C>T
ENST00000539743.5:c.1711C>T	ENSP00000446108.1:p.Gln571Ter
ENST00000540367.5:c.1711C>T	ENSP00000439084.1:p.Gln571Ter
NM_001031847.2:c.1711C>T	NP_001027017.1:p.Gln571Ter
NM_001876.3:c.1711C>T	NP_001867.2:p.Gln571Ter
XM_005273762.1:c.1807C>T	XP_005273819.1:p.Gln603Ter
XM_005273763.1:c.1807C>T	XP_005273820.1:p.Gln603Ter
XM_005273762.3:c.1807C>T	XP_005273819.1:p.Gln603Ter
XM_017017220.1:c.1711C>T	XP_016872709.1:p.Gln571Ter
NM_001876.4:c.1711C>T MANE Select	NP_001867.2:p.Gln571Ter
NM_001031847.3:c.1711C>T	NP_001027017.1:p.Gln571Ter