Canonical Allele Identifier: CA420949147

Gene: RPS27

Linked Data

• ClinVar Variation Id: 2776912
• ClinVar RCV Id: RCV003665002
• dbSNP Id: rs1192437249
• gnomAD v2: 1-153963653-C-T
• gnomAD v3: 1-153991177-C-T
• gnomAD v4: 1-153991177-C-T
• MyVariant Identifiers: chr1:g.153963653C>T (hg19) ; chr1:g.153991177C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991177C>T , CM000663.2:g.153991177C>T	GRCh38
NC_000001.10:g.153963653C>T , CM000663.1:g.153963653C>T	GRCh37
NC_000001.9:g.152230277C>T	NCBI36
NG_053102.2:g.5423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.257C>T
ENST00000643794.1:c.190C>T	ENSP00000495765.1:p.Pro64Ser
ENST00000651669.1:c.69C>T MANE Select	ENSP00000499044.1:p.Arg23=
ENST00000368567.4:c.69C>T	ENSP00000357555.4:p.Arg23=
ENST00000392558.4:c.69C>T	ENSP00000376341.4:p.Arg23=
ENST00000477151.1:n.224C>T
ENST00000493224.5:n.335C>T
NM_001030.4:c.69C>T	NP_001021.1:p.Arg23=
NM_001030.6:c.69C>T MANE Select	NP_001021.1:p.Arg23=
NM_001349946.1:c.-28C>T	NP_001336875.1:n.-28C>T
NM_001349947.1:c.-28C>T	NP_001336876.1:n.-28C>T
NM_001349946.2:c.-28C>T	NP_001336875.1:n.-28C>T
NM_001349947.2:c.-28C>T	NP_001336876.1:n.-28C>T