Canonical Allele Identifier: CA3897920
Gene: IMPG1 HGNC NCBI
COSMIC:
COSM3762189 (not active)
COSM3762190 (not active)
MyVariant.info:
GRCh38 chr6:g.75931064C>T
GRCh37 chr6:g.76640781C>T
Revel Score:
ENST00000369950 (MANE Select) 0.071
ENST00000369952 0.071
gnomAD v2:
6:76640781 C / T
gnomAD v3:
6:75931064 C / T
gnomAD v4:
chr6-75931064-C-T
Joint Max Group AF 0.2780272 (EAS)
Genomes Max Group AF 0.25354921 (EAS)
Exomes Max Group AF 0.27994395 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.75931064C>T , CM000668.2:g.75931064C>T GRCh38
NC_000006.11:g.76640781C>T , CM000668.1:g.76640781C>T GRCh37
NC_000006.10:g.76697501C>T NCBI36
NG_041812.1:g.146615G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369950.8:c.2132G>A MANE Select ENSP00000358966.3:p.Arg711His
ENST00000369950.7:c.2132G>A ENSP00000358966.3:p.Arg711His
ENST00000369952.3:c.215G>A ENSP00000358968.3:p.Arg72His
ENST00000611179.4:c.1898G>A ENSP00000481913.1:p.Arg633His
NM_001282368.1:c.1898G>A NP_001269297.1:p.Arg633His
NM_001563.3:c.2132G>A NP_001554.2:p.Arg711His
NM_001563.4:c.2132G>A MANE Select NP_001554.2:p.Arg711His
NM_001282368.2:c.1898G>A NP_001269297.1:p.Arg633His
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