Canonical Allele Identifier: CA16776222
Gene: MTCO1P12 HGNC NCBI
COSMIC:
COSN6039400 (not active)
MyVariant.info:
GRCh38 chr1:g.632317G>A
GRCh37 chr1:g.567697G>A
gnomAD v2:
1:567697 G / A
gnomAD v3:
1:632317 G / A
gnomAD v4:
chr1-632317-G-A
Joint Max Group AF 0.03487226 (AFR)
Genomes Max Group AF 0.03310012 (AFR)
Exomes Max Group AF 0.04025728 (AFR)
dbSNP:
1972379
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.632317G>A , CM000663.2:g.632317G>A GRCh38
NC_000001.10:g.567697G>A , CM000663.1:g.567697G>A GRCh37
NC_000001.9:g.557560G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000419394.2:n.481-45362C>T
ENST00000440196.3:n.86+727C>T
ENST00000440200.5:n.170-24261C>T
ENST00000634337.2:n.161-24261C>T
ENST00000635509.2:n.313-30740C>T
ENST00000648019.1:n.636-24261C>T
ENST00000414273.1:n.1244G>A
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