Canonical Allele Identifier: CA1405585501

Gene: MRPS22

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352695C= , CM000665.2:g.139352695C=	GRCh38
NC_000003.11:g.139071537C= , CM000665.1:g.139071537C=	GRCh37
NC_000003.10:g.140554227C=	NCBI36
NG_012174.1:g.13677C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.571C=	ENSP00000419303.2:p.Leu191=
ENST00000480644.2:c.697C=	ENSP00000420229.2:p.Leu233=
ENST00000492644.2:n.3035C=
ENST00000684961.1:c.400C=	ENSP00000508439.1:p.Leu134=
ENST00000686433.1:c.727C=	ENSP00000509173.1:p.Leu243=
ENST00000687538.1:c.571C=	ENSP00000508887.1:p.Leu191=
ENST00000688697.1:c.781C=	ENSP00000510396.1:p.Leu261=
ENST00000689286.1:c.571C=	ENSP00000509897.1:p.Leu191=
ENST00000689925.1:c.*122C=	ENSP00000510082.1:n.*122C=
ENST00000690298.1:c.*422C=	ENSP00000509376.1:n.*422C=
ENST00000691070.1:c.697C=	ENSP00000509723.1:p.Leu233=
ENST00000692727.1:n.3303C=
ENST00000693155.1:n.1458C=
ENST00000310776.9:c.778C=	ENSP00000310785.5:p.Leu260=
ENST00000680020.1:c.781C= MANE Select	ENSP00000505414.1:p.Leu261=
ENST00000310776.8:c.781C=	ENSP00000310785.4:p.Leu261=
ENST00000465056.5:c.778C=	ENSP00000418233.1:p.Leu260=
ENST00000478464.5:c.658C=	ENSP00000419303.1:p.Leu220=
ENST00000480644.1:c.266C=
ENST00000480938.5:n.1435C=
ENST00000492644.1:n.1826C=
ENST00000495075.5:c.781C=	ENSP00000418008.1:p.Leu261=
ENST00000498505.5:c.*378C=	ENSP00000420482.1:n.*378C=
NM_020191.2:c.781C=	NP_064576.1:p.Leu261=
XM_005247640.2:c.778C=	XP_005247697.1:p.Leu260=
XM_006713703.2:c.727C=	XP_006713766.1:p.Leu243=
XM_011512995.1:c.658C=	XP_011511297.1:p.Leu220=
XM_011512996.1:c.655C=	XP_011511298.1:p.Leu219=
NM_001363857.1:c.658C=	NP_001350786.1:p.Leu220=
NM_001363893.1:c.778C=	NP_001350822.1:p.Leu260=
NM_020191.3:c.781C=	NP_064576.1:p.Leu261=
XM_006713703.4:c.727C=	XP_006713766.1:p.Leu243=
XM_011512996.2:c.655C=	XP_011511298.1:p.Leu219=
NM_020191.4:c.781C= MANE Select	NP_064576.1:p.Leu261=