Canonical Allele Identifier: CA223375615

Gene: CPT1A

Linked Data

• dbSNP Id: rs766806586
• gnomAD v3: 11-68784665-C-A
• gnomAD v4: 11-68784665-C-A
• MyVariant Identifiers: chr11:g.68552133C>A (hg19) ; chr11:g.68784665C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68784665C>A , CM000673.2:g.68784665C>A	GRCh38
NC_000011.9:g.68552133C>A , CM000673.1:g.68552133C>A	GRCh37
NC_000011.8:g.68308709C>A	NCBI36
NG_011801.1:g.62267G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1163+150G>T MANE Select	ENSP00000265641.4:n.1163+150G>T
ENST00000265641.9:c.1163+150G>T	ENSP00000265641.4:n.1163+150G>T
ENST00000376618.6:c.1163+150G>T	ENSP00000365803.2:n.1163+150G>T
ENST00000539743.5:c.1163+150G>T	ENSP00000446108.1:n.1163+150G>T
ENST00000540367.5:c.1163+150G>T	ENSP00000439084.1:n.1163+150G>T
NM_001031847.2:c.1163+150G>T	NP_001027017.1:n.1163+150G>T
NM_001876.3:c.1163+150G>T	NP_001867.2:n.1163+150G>T
XM_005273762.1:c.1259+150G>T	XP_005273819.1:n.1259+150G>T
XM_005273763.1:c.1259+150G>T	XP_005273820.1:n.1259+150G>T
XM_005273762.3:c.1259+150G>T	XP_005273819.1:n.1259+150G>T
XM_017017220.1:c.1163+150G>T	XP_016872709.1:n.1163+150G>T
NM_001876.4:c.1163+150G>T MANE Select	NP_001867.2:n.1163+150G>T
NM_001031847.3:c.1163+150G>T	NP_001027017.1:n.1163+150G>T