Canonical Allele Identifier: CA342587648

Gene: RPS27

Linked Data

• gnomAD v4: 1-153991181-G-T
• MyVariant Identifiers: chr1:g.153963657G>T (hg19) ; chr1:g.153991181G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991181G>T , CM000663.2:g.153991181G>T	GRCh38
NC_000001.10:g.153963657G>T , CM000663.1:g.153963657G>T	GRCh37
NC_000001.9:g.152230281G>T	NCBI36
NG_053102.2:g.5427G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.261G>T
ENST00000643794.1:c.194G>T	ENSP00000495765.1:p.Gly65Val
ENST00000651669.1:c.73G>T MANE Select	ENSP00000499044.1:p.Val25Leu
ENST00000368567.4:c.73G>T	ENSP00000357555.4:p.Val25Leu
ENST00000392558.4:c.73G>T	ENSP00000376341.4:p.Val25Leu
ENST00000477151.1:n.228G>T
ENST00000493224.5:n.339G>T
NM_001030.4:c.73G>T	NP_001021.1:p.Val25Leu
NM_001030.6:c.73G>T MANE Select	NP_001021.1:p.Val25Leu
NM_001349946.1:c.-24G>T	NP_001336875.1:n.-24G>T
NM_001349947.1:c.-24G>T	NP_001336876.1:n.-24G>T
NM_001349946.2:c.-24G>T	NP_001336875.1:n.-24G>T
NM_001349947.2:c.-24G>T	NP_001336876.1:n.-24G>T