Canonical Allele Identifier: CA679632628

Gene: CPT1A

Linked Data

• dbSNP Id: rs557306241
• gnomAD v3: 11-68793516-C-A
• gnomAD v4: 11-68793516-C-A
• MyVariant Identifiers: chr11:g.68560984C>A (hg19) ; chr11:g.68793516C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68793516C>A , CM000673.2:g.68793516C>A	GRCh38
NC_000011.9:g.68560984C>A , CM000673.1:g.68560984C>A	GRCh37
NC_000011.8:g.68317560C>A	NCBI36
NG_011801.1:g.53416G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.880-114G>T MANE Select	ENSP00000265641.4:n.880-114G>T
ENST00000265641.9:c.880-114G>T	ENSP00000265641.4:n.880-114G>T
ENST00000376618.6:c.880-114G>T	ENSP00000365803.2:n.880-114G>T
ENST00000538994.1:c.136-114G>T	ENSP00000454332.1:n.136-114G>T
ENST00000539743.5:c.880-114G>T	ENSP00000446108.1:n.880-114G>T
ENST00000540367.5:c.880-114G>T	ENSP00000439084.1:n.880-114G>T
NM_001031847.2:c.880-114G>T	NP_001027017.1:n.880-114G>T
NM_001876.3:c.880-114G>T	NP_001867.2:n.880-114G>T
XM_005273762.1:c.976-114G>T	XP_005273819.1:n.976-114G>T
XM_005273763.1:c.976-114G>T	XP_005273820.1:n.976-114G>T
XM_005273762.3:c.976-114G>T	XP_005273819.1:n.976-114G>T
XM_017017220.1:c.880-114G>T	XP_016872709.1:n.880-114G>T
NM_001876.4:c.880-114G>T MANE Select	NP_001867.2:n.880-114G>T
NM_001031847.3:c.880-114G>T	NP_001027017.1:n.880-114G>T