Canonical Allele Identifier: CA599988371

Gene: CPT1A

Linked Data

• dbSNP Id: rs1375205018
• gnomAD v2: 11-68543177-T-C
• gnomAD v3: 11-68775709-T-C
• gnomAD v4: 11-68775709-T-C
• MyVariant Identifiers: chr11:g.68543177T>C (hg19) ; chr11:g.68775709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.68775709T>C , CM000673.2:g.68775709T>C	GRCh38
NC_000011.9:g.68543177T>C , CM000673.1:g.68543177T>C	GRCh37
NC_000011.8:g.68299753T>C	NCBI36
NG_011801.1:g.71223A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265641.10:c.1459-277A>G MANE Select	ENSP00000265641.4:n.1459-277A>G
ENST00000265641.9:c.1459-277A>G	ENSP00000265641.4:n.1459-277A>G
ENST00000376618.6:c.1459-277A>G	ENSP00000365803.2:n.1459-277A>G
ENST00000539743.5:c.1459-277A>G	ENSP00000446108.1:n.1459-277A>G
ENST00000540367.5:c.1459-277A>G	ENSP00000439084.1:n.1459-277A>G
NM_001031847.2:c.1459-277A>G	NP_001027017.1:n.1459-277A>G
NM_001876.3:c.1459-277A>G	NP_001867.2:n.1459-277A>G
XM_005273762.1:c.1555-277A>G	XP_005273819.1:n.1555-277A>G
XM_005273763.1:c.1555-277A>G	XP_005273820.1:n.1555-277A>G
XM_005273762.3:c.1555-277A>G	XP_005273819.1:n.1555-277A>G
XM_017017220.1:c.1459-277A>G	XP_016872709.1:n.1459-277A>G
NM_001876.4:c.1459-277A>G MANE Select	NP_001867.2:n.1459-277A>G
NM_001031847.3:c.1459-277A>G	NP_001027017.1:n.1459-277A>G