Canonical Allele Identifier: CA435884656

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139071536C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352694C>T , CM000665.2:g.139352694C>T	GRCh38
NC_000003.11:g.139071536C>T , CM000665.1:g.139071536C>T	GRCh37
NC_000003.10:g.140554226C>T	NCBI36
NG_012174.1:g.13676C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.570C>T	ENSP00000419303.2:p.Asp190=
ENST00000480644.2:c.696C>T	ENSP00000420229.2:p.Asp232=
ENST00000492644.2:n.3034C>T
ENST00000684961.1:c.399C>T	ENSP00000508439.1:p.Asp133=
ENST00000686433.1:c.726C>T	ENSP00000509173.1:p.Asp242=
ENST00000687538.1:c.570C>T	ENSP00000508887.1:p.Asp190=
ENST00000688697.1:c.780C>T	ENSP00000510396.1:p.Asp260=
ENST00000689286.1:c.570C>T	ENSP00000509897.1:p.Asp190=
ENST00000689925.1:c.*121C>T	ENSP00000510082.1:n.*121C>T
ENST00000690298.1:c.*421C>T	ENSP00000509376.1:n.*421C>T
ENST00000691070.1:c.696C>T	ENSP00000509723.1:p.Asp232=
ENST00000692727.1:n.3302C>T
ENST00000693155.1:n.1457C>T
ENST00000310776.9:c.777C>T	ENSP00000310785.5:p.Asp259=
ENST00000680020.1:c.780C>T MANE Select	ENSP00000505414.1:p.Asp260=
ENST00000310776.8:c.780C>T	ENSP00000310785.4:p.Asp260=
ENST00000465056.5:c.777C>T	ENSP00000418233.1:p.Asp259=
ENST00000478464.5:c.657C>T	ENSP00000419303.1:p.Asp219=
ENST00000480644.1:c.265C>T
ENST00000480938.5:n.1434C>T
ENST00000492644.1:n.1825C>T
ENST00000495075.5:c.780C>T	ENSP00000418008.1:p.Asp260=
ENST00000498505.5:c.*377C>T	ENSP00000420482.1:n.*377C>T
NM_020191.2:c.780C>T	NP_064576.1:p.Asp260=
XM_005247640.2:c.777C>T	XP_005247697.1:p.Asp259=
XM_006713703.2:c.726C>T	XP_006713766.1:p.Asp242=
XM_011512995.1:c.657C>T	XP_011511297.1:p.Asp219=
XM_011512996.1:c.654C>T	XP_011511298.1:p.Asp218=
NM_001363857.1:c.657C>T	NP_001350786.1:p.Asp219=
NM_001363893.1:c.777C>T	NP_001350822.1:p.Asp259=
NM_020191.3:c.780C>T	NP_064576.1:p.Asp260=
XM_006713703.4:c.726C>T	XP_006713766.1:p.Asp242=
XM_011512996.2:c.654C>T	XP_011511298.1:p.Asp218=
NM_020191.4:c.780C>T MANE Select	NP_064576.1:p.Asp260=