Canonical Allele Identifier: CA342586990

Gene: RPS27

Linked Data

• dbSNP Id: rs200888936
• gnomAD v4: 1-153991128-T-G
• MyVariant Identifiers: chr1:g.153963604T>G (hg19) ; chr1:g.153991128T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991128T>G , CM000663.2:g.153991128T>G	GRCh38
NC_000001.10:g.153963604T>G , CM000663.1:g.153963604T>G	GRCh37
NC_000001.9:g.152230228T>G	NCBI36
NG_053102.2:g.5374T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.208T>G
ENST00000643794.1:c.141T>G	ENSP00000495765.1:p.Ser47=
ENST00000651669.1:c.20T>G MANE Select	ENSP00000499044.1:p.Leu7Arg
ENST00000368567.4:c.20T>G	ENSP00000357555.4:p.Leu7Arg
ENST00000392558.4:c.20T>G	ENSP00000376341.4:p.Leu7Arg
ENST00000477151.1:n.175T>G
ENST00000493224.5:n.286T>G
NM_001030.4:c.20T>G	NP_001021.1:p.Leu7Arg
NM_001030.6:c.20T>G MANE Select	NP_001021.1:p.Leu7Arg
NM_001349946.1:c.-77T>G	NP_001336875.1:n.-77T>G
NM_001349947.1:c.-77T>G	NP_001336876.1:n.-77T>G
NM_001349946.2:c.-77T>G	NP_001336875.1:n.-77T>G
NM_001349947.2:c.-77T>G	NP_001336876.1:n.-77T>G