Canonical Allele Identifier: CA2640670

Gene: MRPS22

Linked Data

• dbSNP Id: rs768191299
• ExAC: 3:139065786 C / T
• gnomAD v2: 3-139065786-C-T
• gnomAD v3: 3-139346944-C-T
• gnomAD v4: 3-139346944-C-T
• COSMIC: COSM245775
• MyVariant Identifiers: chr3:g.139065786C>T (hg19) ; chr3:g.139346944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139346944C>T , CM000665.2:g.139346944C>T	GRCh38
NC_000003.11:g.139065786C>T , CM000665.1:g.139065786C>T	GRCh37
NC_000003.10:g.140548476C>T	NCBI36
NG_012174.1:g.7926C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.29C>T	ENSP00000419303.2:p.Thr10Met
ENST00000480644.2:c.239C>T	ENSP00000420229.2:p.Thr80Met
ENST00000492644.2:n.253C>T
ENST00000684961.1:c.-42-1216C>T	ENSP00000508439.1:n.-42-1216C>T
ENST00000686433.1:c.239C>T	ENSP00000509173.1:p.Thr80Met
ENST00000687538.1:c.29C>T	ENSP00000508887.1:p.Thr10Met
ENST00000688697.1:c.239C>T	ENSP00000510396.1:p.Thr80Met
ENST00000689286.1:c.29C>T	ENSP00000509897.1:p.Thr10Met
ENST00000689925.1:c.29C>T	ENSP00000510082.1:p.Thr10Met
ENST00000690298.1:c.173-1216C>T	ENSP00000509376.1:n.173-1216C>T
ENST00000691070.1:c.239C>T	ENSP00000509723.1:p.Thr80Met
ENST00000692727.1:n.253C>T
ENST00000693155.1:n.262C>T
ENST00000310776.9:c.236C>T	ENSP00000310785.5:p.Thr79Met
ENST00000680020.1:c.239C>T MANE Select	ENSP00000505414.1:p.Thr80Met
ENST00000310776.8:c.239C>T	ENSP00000310785.4:p.Thr80Met
ENST00000465056.5:c.236C>T	ENSP00000418233.1:p.Thr79Met
ENST00000465373.5:c.254C>T	ENSP00000419920.1:p.Thr85Met
ENST00000466690.5:c.225C>T
ENST00000478464.5:c.116C>T	ENSP00000419303.1:p.Thr39Met
ENST00000480938.5:n.239C>T
ENST00000486705.1:n.150C>T
ENST00000495075.5:c.239C>T	ENSP00000418008.1:p.Thr80Met
ENST00000495225.1:c.149C>T	ENSP00000417104.1:p.Thr50Met
ENST00000498505.5:c.236C>T	ENSP00000420482.1:p.Thr79Met
NM_020191.2:c.239C>T	NP_064576.1:p.Thr80Met
XM_005247640.2:c.236C>T	XP_005247697.1:p.Thr79Met
XM_006713703.2:c.239C>T	XP_006713766.1:p.Thr80Met
XM_011512995.1:c.116C>T	XP_011511297.1:p.Thr39Met
XM_011512996.1:c.113C>T	XP_011511298.1:p.Thr38Met
NM_001363857.1:c.116C>T	NP_001350786.1:p.Thr39Met
NM_001363893.1:c.236C>T	NP_001350822.1:p.Thr79Met
NM_020191.3:c.239C>T	NP_064576.1:p.Thr80Met
XM_006713703.4:c.239C>T	XP_006713766.1:p.Thr80Met
XM_011512996.2:c.113C>T	XP_011511298.1:p.Thr38Met
NM_020191.4:c.239C>T MANE Select	NP_064576.1:p.Thr80Met