Canonical Allele Identifier: CA345374575

Gene: MTR

Linked Data

• dbSNP Id: rs1173247715
• gnomAD v2: 1-237015824-A-G
• gnomAD v3: 1-236852524-A-G
• gnomAD v4: 1-236852524-A-G
• MyVariant Identifiers: chr1:g.237015824A>G (hg19) ; chr1:g.236852524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852524A>G , CM000663.2:g.236852524A>G	GRCh38
NC_000001.10:g.237015824A>G , CM000663.1:g.237015824A>G	GRCh37
NC_000001.9:g.235082447A>G	NCBI36
NG_008959.1:g.62244A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1699A>G MANE Select	ENSP00000355536.5:p.Thr567Ala
ENST00000535889.6:c.1699A>G	ENSP00000441845.1:p.Thr567Ala
ENST00000650888.1:c.*741A>G	ENSP00000498393.1:n.*741A>G
ENST00000651455.1:c.*443A>G	ENSP00000498963.1:n.*443A>G
ENST00000674797.2:c.1351A>G	ENSP00000502299.2:p.Thr451Ala
ENST00000679569.1:n.2013A>G
ENST00000679842.1:c.1699A>G	ENSP00000506109.1:p.Thr567Ala
ENST00000680454.1:n.2143A>G
ENST00000681102.1:c.1519A>G	ENSP00000505600.1:p.Thr507Ala
ENST00000681177.1:c.1516-7309A>G	ENSP00000506327.1:n.1516-7309A>G
ENST00000681937.1:n.2148-7309A>G
ENST00000366576.3:c.361A>G	ENSP00000355535.3:p.Thr121Ala
ENST00000366577.9:c.1699A>G	ENSP00000355536.5:p.Thr567Ala
ENST00000463959.1:n.1718A>G
ENST00000535889.5:c.1699A>G	ENSP00000441845.1:p.Thr567Ala
NM_000254.2:c.1699A>G	NP_000245.2:p.Thr567Ala
NM_001291939.1:c.1699A>G	NP_001278868.1:p.Thr567Ala
NM_001291940.1:c.478A>G	NP_001278869.1:p.Thr160Ala
XM_005273141.3:c.1696A>G	XP_005273198.1:p.Thr566Ala
XM_006711769.2:c.1699A>G	XP_006711832.1:p.Thr567Ala
XM_006711770.1:c.763A>G	XP_006711833.1:p.Thr255Ala
XM_011544193.1:c.1699A>G	XP_011542495.1:p.Thr567Ala
XM_011544194.1:c.1867A>G	XP_011542496.1:p.Thr623Ala
XM_005273141.5:c.1696A>G	XP_005273198.1:p.Thr566Ala
XM_006711770.3:c.763A>G	XP_006711833.1:p.Thr255Ala
XM_011544194.3:c.1867A>G	XP_011542496.1:p.Thr623Ala
XM_017001329.2:c.1867A>G	XP_016856818.1:p.Thr623Ala
XM_017001330.2:c.1867A>G	XP_016856819.1:p.Thr623Ala
NM_001291940.2:c.478A>G	NP_001278869.1:p.Thr160Ala
NM_000254.3:c.1699A>G MANE Select	NP_000245.2:p.Thr567Ala