Canonical Allele Identifier: CA342587055

Gene: RPS27

Linked Data

• gnomAD v4: 1-153991145-G-T
• MyVariant Identifiers: chr1:g.153963621G>T (hg19) ; chr1:g.153991145G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991145G>T , CM000663.2:g.153991145G>T	GRCh38
NC_000001.10:g.153963621G>T , CM000663.1:g.153963621G>T	GRCh37
NC_000001.9:g.152230245G>T	NCBI36
NG_053102.2:g.5391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.225G>T
ENST00000643794.1:c.158G>T	ENSP00000495765.1:p.Arg53Ile
ENST00000651669.1:c.37G>T MANE Select	ENSP00000499044.1:p.Glu13Ter
ENST00000368567.4:c.37G>T	ENSP00000357555.4:p.Glu13Ter
ENST00000392558.4:c.37G>T	ENSP00000376341.4:p.Glu13Ter
ENST00000477151.1:n.192G>T
ENST00000493224.5:n.303G>T
NM_001030.4:c.37G>T	NP_001021.1:p.Glu13Ter
NM_001030.6:c.37G>T MANE Select	NP_001021.1:p.Glu13Ter
NM_001349946.1:c.-60G>T	NP_001336875.1:n.-60G>T
NM_001349947.1:c.-60G>T	NP_001336876.1:n.-60G>T
NM_001349946.2:c.-60G>T	NP_001336875.1:n.-60G>T
NM_001349947.2:c.-60G>T	NP_001336876.1:n.-60G>T