Canonical Allele Identifier: CA345742670
Community Standard Title: NM_001011.4(RPS7):c.75+1G>T
Gene: RPS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3575685G>T , CM000664.2:g.3575685G>T GRCh38
NC_000002.11:g.3623275G>T , CM000664.1:g.3623275G>T GRCh37
NC_000002.10:g.3601150G>T NCBI36
NG_011744.1:g.5423G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001011.4:c.75+1G>T MANE Select NP_001002.1:n.75+1G>T
ENST00000645674.2:c.75+1G>T MANE Select ENSP00000496757.1:n.75+1G>T
NM_001011.3:c.75+1G>T NP_001002.1:n.75+1G>T
ENST00000304921.9:c.75+1G>T ENSP00000339095.4:n.75+1G>T
ENST00000403564.5:c.75+1G>T ENSP00000385018.1:n.75+1G>T
ENST00000406376.1:c.75+1G>T ENSP00000385286.1:n.75+1G>T
ENST00000407445.7:c.75+1G>T ENSP00000385729.3:n.75+1G>T
ENST00000407445.8:c.75+1G>T ENSP00000385729.3:n.75+1G>T
ENST00000462576.5:n.360+1G>T
ENST00000479123.1:n.52+1G>T
ENST00000481006.1:n.327+1G>T
ENST00000491937.5:n.340+1G>T
ENST00000491937.6:n.121+1G>T
ENST00000646909.1:c.75+1G>T ENSP00000496654.1:n.75+1G>T
ENST00000647131.1:c.75+1G>T ENSP00000494995.1:n.75+1G>T