Canonical Allele Identifier: CA1474444

Gene: MTR

Linked Data

• dbSNP Id: rs780995382
• ExAC: 1:237038176 C / T
• gnomAD v2: 1-237038176-C-T
• gnomAD v3: 1-236874876-C-T
• gnomAD v4: 1-236874876-C-T
• MyVariant Identifiers: chr1:g.237038176C>T (hg19) ; chr1:g.236874876C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236874876C>T , CM000663.2:g.236874876C>T	GRCh38
NC_000001.10:g.237038176C>T , CM000663.1:g.237038176C>T	GRCh37
NC_000001.9:g.235104799C>T	NCBI36
NG_008959.1:g.84596C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2594+30C>T MANE Select	ENSP00000355536.5:n.2594+30C>T
ENST00000535889.6:c.2441+30C>T	ENSP00000441845.1:n.2441+30C>T
ENST00000650888.1:c.*1636+30C>T	ENSP00000498393.1:n.*1636+30C>T
ENST00000651455.1:c.*1338+30C>T	ENSP00000498963.1:n.*1338+30C>T
ENST00000674797.2:c.2246+30C>T	ENSP00000502299.2:n.2246+30C>T
ENST00000679569.1:n.2908+30C>T
ENST00000679842.1:c.2406-5879C>T	ENSP00000506109.1:n.2406-5879C>T
ENST00000680454.1:n.3038+30C>T
ENST00000681102.1:c.2414+30C>T	ENSP00000505600.1:n.2414+30C>T
ENST00000681177.1:c.2156+30C>T	ENSP00000506327.1:n.2156+30C>T
ENST00000681937.1:n.2788+30C>T
ENST00000366576.3:c.1256+30C>T	ENSP00000355535.3:n.1256+30C>T
ENST00000366577.9:c.2594+30C>T	ENSP00000355536.5:n.2594+30C>T
ENST00000535889.5:c.2441+30C>T	ENSP00000441845.1:n.2441+30C>T
NM_000254.2:c.2594+30C>T	NP_000245.2:n.2594+30C>T
NM_001291939.1:c.2441+30C>T	NP_001278868.1:n.2441+30C>T
NM_001291940.1:c.1373+30C>T	NP_001278869.1:n.1373+30C>T
XM_005273141.3:c.2591+30C>T	XP_005273198.1:n.2591+30C>T
XM_006711769.2:c.2594+30C>T	XP_006711832.1:n.2594+30C>T
XM_006711770.1:c.1658+30C>T	XP_006711833.1:n.1658+30C>T
XM_011544193.1:c.2406-5879C>T	XP_011542495.1:n.2406-5879C>T
XM_011544194.1:c.2762+30C>T	XP_011542496.1:n.2762+30C>T
XM_005273141.5:c.2591+30C>T	XP_005273198.1:n.2591+30C>T
XM_006711770.3:c.1658+30C>T	XP_006711833.1:n.1658+30C>T
XM_011544194.3:c.2762+30C>T	XP_011542496.1:n.2762+30C>T
XM_017001329.2:c.2609+30C>T	XP_016856818.1:n.2609+30C>T
XM_017001330.2:c.2574-5879C>T	XP_016856819.1:n.2574-5879C>T
NM_001291940.2:c.1373+30C>T	NP_001278869.1:n.1373+30C>T
NM_000254.3:c.2594+30C>T MANE Select	NP_000245.2:n.2594+30C>T