Canonical Allele Identifier: CA381630091

Gene: CPT1A

Linked Data

• dbSNP Id: rs1195008975
• gnomAD v2: 11-68542890-G-A
• gnomAD v4: 11-68775422-G-A
• MyVariant Identifiers: chr11:g.68542890G>A (hg19) ; chr11:g.68775422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68775422G>A , CM000673.2:g.68775422G>A	GRCh38
NC_000011.9:g.68542890G>A , CM000673.1:g.68542890G>A	GRCh37
NC_000011.8:g.68299466G>A	NCBI36
NG_011801.1:g.71510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1469C>T MANE Select	ENSP00000265641.4:p.Ser490Phe
ENST00000265641.9:c.1469C>T	ENSP00000265641.4:p.Ser490Phe
ENST00000376618.6:c.1469C>T	ENSP00000365803.2:p.Ser490Phe
ENST00000539743.5:c.1469C>T	ENSP00000446108.1:p.Ser490Phe
ENST00000540367.5:c.1469C>T	ENSP00000439084.1:p.Ser490Phe
NM_001031847.2:c.1469C>T	NP_001027017.1:p.Ser490Phe
NM_001876.3:c.1469C>T	NP_001867.2:p.Ser490Phe
XM_005273762.1:c.1565C>T	XP_005273819.1:p.Ser522Phe
XM_005273763.1:c.1565C>T	XP_005273820.1:p.Ser522Phe
XM_005273762.3:c.1565C>T	XP_005273819.1:p.Ser522Phe
XM_017017220.1:c.1469C>T	XP_016872709.1:p.Ser490Phe
NM_001876.4:c.1469C>T MANE Select	NP_001867.2:p.Ser490Phe
NM_001031847.3:c.1469C>T	NP_001027017.1:p.Ser490Phe