Canonical Allele Identifier: CA16775474
Gene: MTCO1P12 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.631391C>T
GRCh37 chr1:g.566771C>T
gnomAD v2:
1:566771 C / T
gnomAD v3:
1:631391 C / T
gnomAD v4:
chr1-631391-C-T
Joint Max Group AF 0.00012919 (SAS)
Exomes Max Group AF 0.00033173 (SAS)
dbSNP:
2185536
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.631391C>T , CM000663.2:g.631391C>T GRCh38
NC_000001.10:g.566771C>T , CM000663.1:g.566771C>T GRCh37
NC_000001.9:g.556634C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000419394.2:n.481-44436G>A
ENST00000440196.3:n.86+1653G>A
ENST00000440200.5:n.170-23335G>A
ENST00000634337.2:n.161-23335G>A
ENST00000635509.2:n.313-29814G>A
ENST00000648019.1:n.636-23335G>A
ENST00000414273.1:n.318C>T
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