Canonical Allele Identifier: CA6152676

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 377753
• ClinVar RCV Id: RCV000436427 ; RCV000877069 ; RCV003957905
• dbSNP Id: rs183694834
• ExAC: 11:68574926 C / T
• gnomAD v2: 11-68574926-C-T
• gnomAD v3: 11-68807458-C-T
• gnomAD v4: 11-68807458-C-T
• MyVariant Identifiers: chr11:g.68574926C>T (hg19) ; chr11:g.68807458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68807458C>T , CM000673.2:g.68807458C>T	GRCh38
NC_000011.9:g.68574926C>T , CM000673.1:g.68574926C>T	GRCh37
NC_000011.8:g.68331502C>T	NCBI36
NG_011801.1:g.39474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.453+9G>A MANE Select	ENSP00000265641.4:n.453+9G>A
ENST00000265641.9:c.453+9G>A	ENSP00000265641.4:n.453+9G>A
ENST00000376618.6:c.453+9G>A	ENSP00000365803.2:n.453+9G>A
ENST00000539743.5:c.453+9G>A	ENSP00000446108.1:n.453+9G>A
ENST00000540367.5:c.453+9G>A	ENSP00000439084.1:n.453+9G>A
NM_001031847.2:c.453+9G>A	NP_001027017.1:n.453+9G>A
NM_001876.3:c.453+9G>A	NP_001867.2:n.453+9G>A
XM_005273762.1:c.549+9G>A	XP_005273819.1:n.549+9G>A
XM_005273763.1:c.549+9G>A	XP_005273820.1:n.549+9G>A
XM_005273762.3:c.549+9G>A	XP_005273819.1:n.549+9G>A
XM_017017220.1:c.453+9G>A	XP_016872709.1:n.453+9G>A
NM_001876.4:c.453+9G>A MANE Select	NP_001867.2:n.453+9G>A
NM_001031847.3:c.453+9G>A	NP_001027017.1:n.453+9G>A