Canonical Allele Identifier: CA1473643

Gene: MTR

Linked Data

• ClinVar Variation Id: 534573
• ClinVar RCV Id: RCV000986574 ; RCV001099441 ; RCV001706693
• dbSNP Id: rs12749581
• ExAC: 1:236966848 G / A
• gnomAD v2: 1-236966848-G-A
• gnomAD v3: 1-236803548-G-A
• gnomAD v4: 1-236803548-G-A
• MyVariant Identifiers: chr1:g.236966848G>A (hg19) ; chr1:g.236803548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236803548G>A , CM000663.2:g.236803548G>A	GRCh38
NC_000001.10:g.236966848G>A , CM000663.1:g.236966848G>A	GRCh37
NC_000001.9:g.235033471G>A	NCBI36
NG_008959.1:g.13268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.155G>A MANE Select	ENSP00000355536.5:p.Arg52Gln
ENST00000535889.6:c.155G>A	ENSP00000441845.1:p.Arg52Gln
ENST00000650888.1:c.155G>A	ENSP00000498393.1:p.Arg52Gln
ENST00000651455.1:c.155G>A	ENSP00000498963.1:p.Arg52Gln
ENST00000652435.1:c.-99-2596G>A	ENSP00000505932.1:n.-99-2596G>A
ENST00000674797.2:c.-99-2596G>A	ENSP00000502299.2:n.-99-2596G>A
ENST00000679569.1:n.469G>A
ENST00000679842.1:c.155G>A	ENSP00000506109.1:p.Arg52Gln
ENST00000680454.1:n.599G>A
ENST00000681102.1:c.155G>A	ENSP00000505600.1:p.Arg52Gln
ENST00000681177.1:c.155G>A	ENSP00000506327.1:p.Arg52Gln
ENST00000366577.9:c.155G>A	ENSP00000355536.5:p.Arg52Gln
ENST00000463959.1:n.244G>A
ENST00000535889.5:c.155G>A	ENSP00000441845.1:p.Arg52Gln
NM_000254.2:c.155G>A	NP_000245.2:p.Arg52Gln
NM_001291939.1:c.155G>A	NP_001278868.1:p.Arg52Gln
NM_001291940.1:c.-954G>A	NP_001278869.1:n.-954G>A
XM_005273141.3:c.152G>A	XP_005273198.1:p.Arg51Gln
XM_006711769.2:c.155G>A	XP_006711832.1:p.Arg52Gln
XM_011544193.1:c.155G>A	XP_011542495.1:p.Arg52Gln
XM_011544194.1:c.418-2596G>A	XP_011542496.1:n.418-2596G>A
XM_005273141.5:c.152G>A	XP_005273198.1:p.Arg51Gln
XM_011544194.3:c.418-2596G>A	XP_011542496.1:n.418-2596G>A
XM_017001329.2:c.418-2596G>A	XP_016856818.1:n.418-2596G>A
XM_017001330.2:c.418-2596G>A	XP_016856819.1:n.418-2596G>A
NM_001291940.2:c.-954G>A	NP_001278869.1:n.-954G>A
NM_000254.3:c.155G>A MANE Select	NP_000245.2:p.Arg52Gln