Canonical Allele Identifier: CA223384421

Gene: CPT1A

Linked Data

• dbSNP Id: rs926963227
• gnomAD v3: 11-68793077-C-T
• gnomAD v4: 11-68793077-C-T
• MyVariant Identifiers: chr11:g.68560545C>T (hg19) ; chr11:g.68793077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68793077C>T , CM000673.2:g.68793077C>T	GRCh38
NC_000011.9:g.68560545C>T , CM000673.1:g.68560545C>T	GRCh37
NC_000011.8:g.68317121C>T	NCBI36
NG_011801.1:g.53855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.967+238G>A MANE Select	ENSP00000265641.4:n.967+238G>A
ENST00000265641.9:c.967+238G>A	ENSP00000265641.4:n.967+238G>A
ENST00000376618.6:c.967+238G>A	ENSP00000365803.2:n.967+238G>A
ENST00000538994.1:c.223+238G>A	ENSP00000454332.1:n.223+238G>A
ENST00000539743.5:c.967+238G>A	ENSP00000446108.1:n.967+238G>A
ENST00000540367.5:c.967+238G>A	ENSP00000439084.1:n.967+238G>A
NM_001031847.2:c.967+238G>A	NP_001027017.1:n.967+238G>A
NM_001876.3:c.967+238G>A	NP_001867.2:n.967+238G>A
XM_005273762.1:c.1063+238G>A	XP_005273819.1:n.1063+238G>A
XM_005273763.1:c.1063+238G>A	XP_005273820.1:n.1063+238G>A
XM_005273762.3:c.1063+238G>A	XP_005273819.1:n.1063+238G>A
XM_017017220.1:c.967+238G>A	XP_016872709.1:n.967+238G>A
NM_001876.4:c.967+238G>A MANE Select	NP_001867.2:n.967+238G>A
NM_001031847.3:c.967+238G>A	NP_001027017.1:n.967+238G>A