Canonical Allele Identifier: CA342587043

Gene: RPS27

Linked Data

• ClinVar Variation Id: 3156186
• ClinVar RCV Id: RCV004452064
• dbSNP Id: rs1333360079
• gnomAD v2: 1-153963618-C-T
• gnomAD v3: 1-153991142-C-T
• gnomAD v4: 1-153991142-C-T
• MyVariant Identifiers: chr1:g.153963618C>T (hg19) ; chr1:g.153991142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991142C>T , CM000663.2:g.153991142C>T	GRCh38
NC_000001.10:g.153963618C>T , CM000663.1:g.153963618C>T	GRCh37
NC_000001.9:g.152230242C>T	NCBI36
NG_053102.2:g.5388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.222C>T
ENST00000643794.1:c.155C>T	ENSP00000495765.1:p.Ser52Phe
ENST00000651669.1:c.34C>T MANE Select	ENSP00000499044.1:p.Pro12Ser
ENST00000368567.4:c.34C>T	ENSP00000357555.4:p.Pro12Ser
ENST00000392558.4:c.34C>T	ENSP00000376341.4:p.Pro12Ser
ENST00000477151.1:n.189C>T
ENST00000493224.5:n.300C>T
NM_001030.4:c.34C>T	NP_001021.1:p.Pro12Ser
NM_001030.6:c.34C>T MANE Select	NP_001021.1:p.Pro12Ser
NM_001349946.1:c.-63C>T	NP_001336875.1:n.-63C>T
NM_001349947.1:c.-63C>T	NP_001336876.1:n.-63C>T
NM_001349946.2:c.-63C>T	NP_001336875.1:n.-63C>T
NM_001349947.2:c.-63C>T	NP_001336876.1:n.-63C>T