Canonical Allele Identifier: CA1516526
Community Standard Title: NM_001011.4(RPS7):c.66C>T (p.Gly22=)
Gene: RPS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3575675C>T , CM000664.2:g.3575675C>T GRCh38
NC_000002.11:g.3623265C>T , CM000664.1:g.3623265C>T GRCh37
NC_000002.10:g.3601140C>T NCBI36
NG_011744.1:g.5413C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001011.4:c.66C>T MANE Select NP_001002.1:p.Gly22=
ENST00000645674.2:c.66C>T MANE Select ENSP00000496757.1:p.Gly22=
NM_001011.3:c.66C>T NP_001002.1:p.Gly22=
ENST00000304921.9:c.66C>T ENSP00000339095.4:p.Gly22=
ENST00000403564.5:c.66C>T ENSP00000385018.1:p.Gly22=
ENST00000406376.1:c.66C>T ENSP00000385286.1:p.Gly22=
ENST00000407445.7:c.66C>T ENSP00000385729.3:p.Gly22=
ENST00000407445.8:c.66C>T ENSP00000385729.3:p.Gly22=
ENST00000462576.5:n.351C>T
ENST00000479123.1:n.43C>T
ENST00000481006.1:n.318C>T
ENST00000491937.5:n.331C>T
ENST00000491937.6:n.112C>T
ENST00000646909.1:c.66C>T ENSP00000496654.1:p.Gly22=
ENST00000647131.1:c.66C>T ENSP00000494995.1:p.Gly22=