Canonical Allele Identifier: CA16041540
Gene: CPT1A HGNC NCBI

Linked Data

ClinVar Variation Id: 371403
ClinVar RCV Id: RCV000409488
dbSNP Id: rs1057517245
MyVariant Identifiers: chr11:g.68562381T>C (hg19) chr11:g.68794913T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68794913T>C , CM000673.2:g.68794913T>C GRCh38
NC_000011.9:g.68562381T>C , CM000673.1:g.68562381T>C GRCh37
NC_000011.8:g.68318957T>C NCBI36
NG_011801.1:g.52019A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265641.10:c.772-2A>G MANE Select ENSP00000265641.4:n.772-2A>G
ENST00000265641.9:c.772-2A>G ENSP00000265641.4:n.772-2A>G
ENST00000376618.6:c.772-2A>G ENSP00000365803.2:n.772-2A>G
ENST00000538994.1:c.28-2A>G ENSP00000454332.1:n.28-2A>G
ENST00000539743.5:c.772-2A>G ENSP00000446108.1:n.772-2A>G
ENST00000540367.5:c.772-2A>G ENSP00000439084.1:n.772-2A>G
NM_001031847.2:c.772-2A>G NP_001027017.1:n.772-2A>G
NM_001876.3:c.772-2A>G NP_001867.2:n.772-2A>G
XM_005273762.1:c.868-2A>G XP_005273819.1:n.868-2A>G
XM_005273763.1:c.868-2A>G XP_005273820.1:n.868-2A>G
XM_005273762.3:c.868-2A>G XP_005273819.1:n.868-2A>G
XM_017017220.1:c.772-2A>G XP_016872709.1:n.772-2A>G
NM_001876.4:c.772-2A>G MANE Select NP_001867.2:n.772-2A>G
NM_001031847.3:c.772-2A>G NP_001027017.1:n.772-2A>G
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