Canonical Allele Identifier: CA354760885

Gene: MRPS22

Linked Data

• MyVariant Identifiers: chr3:g.139069033G>C (hg19) ; chr3:g.139350191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139350191G>C , CM000665.2:g.139350191G>C	GRCh38
NC_000003.11:g.139069033G>C , CM000665.1:g.139069033G>C	GRCh37
NC_000003.10:g.140551723G>C	NCBI36
NG_012174.1:g.11173G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.307G>C	ENSP00000419303.2:p.Val103Leu
ENST00000480644.2:c.517G>C	ENSP00000420229.2:p.Val173Leu
ENST00000492644.2:n.531G>C
ENST00000684961.1:c.136G>C	ENSP00000508439.1:p.Val46Leu
ENST00000686433.1:c.517G>C	ENSP00000509173.1:p.Val173Leu
ENST00000687538.1:c.307G>C	ENSP00000508887.1:p.Val103Leu
ENST00000688697.1:c.517G>C	ENSP00000510396.1:p.Val173Leu
ENST00000689286.1:c.307G>C	ENSP00000509897.1:p.Val103Leu
ENST00000689925.1:c.307G>C	ENSP00000510082.1:p.Val103Leu
ENST00000690298.1:c.*158G>C	ENSP00000509376.1:n.*158G>C
ENST00000691070.1:c.517G>C	ENSP00000509723.1:p.Val173Leu
ENST00000692727.1:n.2385G>C
ENST00000693155.1:n.540G>C
ENST00000310776.9:c.514G>C	ENSP00000310785.5:p.Val172Leu
ENST00000680020.1:c.517G>C MANE Select	ENSP00000505414.1:p.Val173Leu
ENST00000310776.8:c.517G>C	ENSP00000310785.4:p.Val173Leu
ENST00000465056.5:c.514G>C	ENSP00000418233.1:p.Val172Leu
ENST00000465373.5:c.532G>C	ENSP00000419920.1:p.Val178Leu
ENST00000466690.5:c.610G>C
ENST00000478464.5:c.394G>C	ENSP00000419303.1:p.Val132Leu
ENST00000480644.1:c.56G>C
ENST00000480938.5:n.517G>C
ENST00000483545.1:n.257G>C
ENST00000495075.5:c.517G>C	ENSP00000418008.1:p.Val173Leu
ENST00000498505.5:c.*114G>C	ENSP00000420482.1:n.*114G>C
NM_020191.2:c.517G>C	NP_064576.1:p.Val173Leu
XM_005247640.2:c.514G>C	XP_005247697.1:p.Val172Leu
XM_006713703.2:c.517G>C	XP_006713766.1:p.Val173Leu
XM_011512995.1:c.394G>C	XP_011511297.1:p.Val132Leu
XM_011512996.1:c.391G>C	XP_011511298.1:p.Val131Leu
NM_001363857.1:c.394G>C	NP_001350786.1:p.Val132Leu
NM_001363893.1:c.514G>C	NP_001350822.1:p.Val172Leu
NM_020191.3:c.517G>C	NP_064576.1:p.Val173Leu
XM_006713703.4:c.517G>C	XP_006713766.1:p.Val173Leu
XM_011512996.2:c.391G>C	XP_011511298.1:p.Val131Leu
NM_020191.4:c.517G>C MANE Select	NP_064576.1:p.Val173Leu