Canonical Allele Identifier: CA2573332077
Community Standard Title: NM_001011.4(RPS7):c.-19+1G>T
Gene: RPS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3575351G>T , CM000664.2:g.3575351G>T GRCh38
NC_000002.11:g.3622941G>T , CM000664.1:g.3622941G>T GRCh37
NC_000002.10:g.3600816G>T NCBI36
NG_011744.1:g.5089G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001011.4:c.-19+1G>T MANE Select NP_001002.1:n.-19+1G>T
ENST00000645674.2:c.-19+1G>T MANE Select ENSP00000496757.1:n.-19+1G>T
NM_001011.3:c.-19+1G>T NP_001002.1:n.-19+1G>T
ENST00000304921.9:c.-19+1G>T ENSP00000339095.4:n.-19+1G>T
ENST00000403564.5:c.-116G>T ENSP00000385018.1:n.-116G>T
ENST00000407445.7:c.-19+1G>T ENSP00000385729.3:n.-19+1G>T
ENST00000407445.8:c.-259G>T ENSP00000385729.3:n.-259G>T
ENST00000462576.5:n.27G>T
ENST00000491937.5:n.7G>T
ENST00000491937.6:n.28+1G>T
ENST00000646909.1:c.-54+1G>T ENSP00000496654.1:n.-54+1G>T
ENST00000647131.1:c.-19+1G>T ENSP00000494995.1:n.-19+1G>T