Canonical Allele Identifier: CA16778904
Gene: MTATP6P1 HGNC NCBI
COSMIC:
COSN6039478 (not active)
MyVariant.info:
GRCh38 chr1:g.634224G>A
GRCh37 chr1:g.569604G>A
gnomAD v2:
1:569604 G / A
gnomAD v3:
1:634224 G / A
gnomAD v4:
chr1-634224-G-A
Joint Max Group AF 0.00059424 (MID)
Genomes Max Group AF 0.00024695 (NFE)
Exomes Max Group AF 0.00031354 (MID)
dbSNP:
9645429
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.634224G>A , CM000663.2:g.634224G>A GRCh38
NC_000001.10:g.569604G>A , CM000663.1:g.569604G>A GRCh37
NC_000001.9:g.559467G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000419394.2:n.481-47269C>T
ENST00000440200.5:n.170-26168C>T
ENST00000634337.2:n.161-26168C>T
ENST00000635509.2:n.313-32647C>T
ENST00000648019.1:n.636-26168C>T
ENST00000514057.1:n.529G>A
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