Canonical Allele Identifier: CA381636558

Gene: CPT1A

Linked Data

• gnomAD v4: 11-68807476-C-A
• COSMIC: COSM931312 ; COSM4863759
• MyVariant Identifiers: chr11:g.68574944C>A (hg19) ; chr11:g.68807476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68807476C>A , CM000673.2:g.68807476C>A	GRCh38
NC_000011.9:g.68574944C>A , CM000673.1:g.68574944C>A	GRCh37
NC_000011.8:g.68331520C>A	NCBI36
NG_011801.1:g.39456G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.444G>T MANE Select	ENSP00000265641.4:p.Lys148Asn
ENST00000265641.9:c.444G>T	ENSP00000265641.4:p.Lys148Asn
ENST00000376618.6:c.444G>T	ENSP00000365803.2:p.Lys148Asn
ENST00000539743.5:c.444G>T	ENSP00000446108.1:p.Lys148Asn
ENST00000540367.5:c.444G>T	ENSP00000439084.1:p.Lys148Asn
NM_001031847.2:c.444G>T	NP_001027017.1:p.Lys148Asn
NM_001876.3:c.444G>T	NP_001867.2:p.Lys148Asn
XM_005273762.1:c.540G>T	XP_005273819.1:p.Lys180Asn
XM_005273763.1:c.540G>T	XP_005273820.1:p.Lys180Asn
XM_005273762.3:c.540G>T	XP_005273819.1:p.Lys180Asn
XM_017017220.1:c.444G>T	XP_016872709.1:p.Lys148Asn
NM_001876.4:c.444G>T MANE Select	NP_001867.2:p.Lys148Asn
NM_001031847.3:c.444G>T	NP_001027017.1:p.Lys148Asn