Canonical Allele Identifier: CA381633292

Gene: CPT1A

Linked Data

• dbSNP Id: rs1272420472
• gnomAD v2: 11-68552370-A-T
• gnomAD v4: 11-68784902-A-T
• MyVariant Identifiers: chr11:g.68552370A>T (hg19) ; chr11:g.68784902A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68784902A>T , CM000673.2:g.68784902A>T	GRCh38
NC_000011.9:g.68552370A>T , CM000673.1:g.68552370A>T	GRCh37
NC_000011.8:g.68308946A>T	NCBI36
NG_011801.1:g.62030T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265641.10:c.1076T>A MANE Select	ENSP00000265641.4:p.Met359Lys
ENST00000265641.9:c.1076T>A	ENSP00000265641.4:p.Met359Lys
ENST00000376618.6:c.1076T>A	ENSP00000365803.2:p.Met359Lys
ENST00000539743.5:c.1076T>A	ENSP00000446108.1:p.Met359Lys
ENST00000540367.5:c.1076T>A	ENSP00000439084.1:p.Met359Lys
NM_001031847.2:c.1076T>A	NP_001027017.1:p.Met359Lys
NM_001876.3:c.1076T>A	NP_001867.2:p.Met359Lys
XM_005273762.1:c.1172T>A	XP_005273819.1:p.Met391Lys
XM_005273763.1:c.1172T>A	XP_005273820.1:p.Met391Lys
XM_005273762.3:c.1172T>A	XP_005273819.1:p.Met391Lys
XM_017017220.1:c.1076T>A	XP_016872709.1:p.Met359Lys
NM_001876.4:c.1076T>A MANE Select	NP_001867.2:p.Met359Lys
NM_001031847.3:c.1076T>A	NP_001027017.1:p.Met359Lys