Canonical Allele Identifier: CA475207523

Gene: CPT1A

Linked Data

• ClinVar Variation Id: 1100683
• ClinVar RCV Id: RCV001423374
• dbSNP Id: rs1856241635
• gnomAD v3: 11-68812487-G-A
• gnomAD v4: 11-68812487-G-A
• MyVariant Identifiers: chr11:g.68579955G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68812487G>A , CM000673.2:g.68812487G>A	GRCh38
NC_000011.9:g.68579955G>A , CM000673.1:g.68579955G>A	GRCh37
NC_000011.8:g.68336531G>A	NCBI36
NG_011801.1:g.34445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.231C>T MANE Select	ENSP00000265641.4:p.Ile77=
ENST00000265641.9:c.231C>T	ENSP00000265641.4:p.Ile77=
ENST00000376618.6:c.231C>T	ENSP00000365803.2:p.Ile77=
ENST00000539743.5:c.231C>T	ENSP00000446108.1:p.Ile77=
ENST00000540367.5:c.231C>T	ENSP00000439084.1:p.Ile77=
ENST00000561996.1:c.231C>T	ENSP00000457663.1:p.Ile77=
ENST00000565318.5:c.231C>T	ENSP00000457826.1:p.Ile77=
ENST00000569129.5:c.231C>T	ENSP00000455116.1:p.Ile77=
NM_001031847.2:c.231C>T	NP_001027017.1:p.Ile77=
NM_001876.3:c.231C>T	NP_001867.2:p.Ile77=
XM_005273762.1:c.327C>T	XP_005273819.1:p.Ile109=
XM_005273763.1:c.327C>T	XP_005273820.1:p.Ile109=
XM_005273762.3:c.327C>T	XP_005273819.1:p.Ile109=
XM_017017220.1:c.231C>T	XP_016872709.1:p.Ile77=
NM_001876.4:c.231C>T MANE Select	NP_001867.2:p.Ile77=
NM_001031847.3:c.231C>T	NP_001027017.1:p.Ile77=