Canonical Allele Identifier: CA4175354
Gene: MACC1 HGNC NCBI
COSMIC:
COSM3762560 (not active)
MyVariant.info:
GRCh38 chr7:g.20158817G>A
GRCh37 chr7:g.20198440G>A
Revel Score:
ENST00000400331 (MANE Select) 0.118
ENST00000332878 0.118
gnomAD v2:
7:20198440 G / A
gnomAD v3:
7:20158817 G / A
gnomAD v4:
chr7-20158817-G-A
Joint Max Group AF 0.79924461 (EAS)
Genomes Max Group AF 0.78221041 (EAS)
Exomes Max Group AF 0.79927565 (EAS)
dbSNP:
975263
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20158817G>A , CM000669.2:g.20158817G>A GRCh38
NC_000007.13:g.20198440G>A , CM000669.1:g.20198440G>A GRCh37
NC_000007.12:g.20164965G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000400331.10:c.1544C>T MANE Select ENSP00000383185.3:p.Ser515Leu
ENST00000332878.8:c.1544C>T ENSP00000328410.4:p.Ser515Leu
ENST00000400331.9:c.1544C>T ENSP00000383185.3:p.Ser515Leu
ENST00000589011.1:c.1544C>T ENSP00000466864.1:p.Ser515Leu
NM_182762.3:c.1544C>T NP_877439.3:p.Ser515Leu
NM_182762.4:c.1544C>T MANE Select NP_877439.3:p.Ser515Leu
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