Canonical Allele Identifier: CA39745537

Gene: MTR

Linked Data

• dbSNP Id: rs1014468250
• gnomAD v4: 1-236852971-G-A
• MyVariant Identifiers: chr1:g.237016271G>A (hg19) ; chr1:g.236852971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852971G>A , CM000663.2:g.236852971G>A	GRCh38
NC_000001.10:g.237016271G>A , CM000663.1:g.237016271G>A	GRCh37
NC_000001.9:g.235082894G>A	NCBI36
NG_008959.1:g.62691G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1836G>A MANE Select	ENSP00000355536.5:p.Val612=
ENST00000535889.6:c.1836G>A	ENSP00000441845.1:p.Val612=
ENST00000650888.1:c.*878G>A	ENSP00000498393.1:n.*878G>A
ENST00000651455.1:c.*580G>A	ENSP00000498963.1:n.*580G>A
ENST00000674797.2:c.1488G>A	ENSP00000502299.2:p.Val496=
ENST00000679569.1:n.2150G>A
ENST00000679842.1:c.1836G>A	ENSP00000506109.1:p.Val612=
ENST00000680454.1:n.2280G>A
ENST00000681102.1:c.1656G>A	ENSP00000505600.1:p.Val552=
ENST00000681177.1:c.1516-6862G>A	ENSP00000506327.1:n.1516-6862G>A
ENST00000681937.1:n.2148-6862G>A
ENST00000366576.3:c.498G>A	ENSP00000355535.3:p.Val166=
ENST00000366577.9:c.1836G>A	ENSP00000355536.5:p.Val612=
ENST00000463959.1:n.1855G>A
ENST00000535889.5:c.1836G>A	ENSP00000441845.1:p.Val612=
NM_000254.2:c.1836G>A	NP_000245.2:p.Val612=
NM_001291939.1:c.1836G>A	NP_001278868.1:p.Val612=
NM_001291940.1:c.615G>A	NP_001278869.1:p.Val205=
XM_005273141.3:c.1833G>A	XP_005273198.1:p.Val611=
XM_006711769.2:c.1836G>A	XP_006711832.1:p.Val612=
XM_006711770.1:c.900G>A	XP_006711833.1:p.Val300=
XM_011544193.1:c.1836G>A	XP_011542495.1:p.Val612=
XM_011544194.1:c.2004G>A	XP_011542496.1:p.Val668=
XM_005273141.5:c.1833G>A	XP_005273198.1:p.Val611=
XM_006711770.3:c.900G>A	XP_006711833.1:p.Val300=
XM_011544194.3:c.2004G>A	XP_011542496.1:p.Val668=
XM_017001329.2:c.2004G>A	XP_016856818.1:p.Val668=
XM_017001330.2:c.2004G>A	XP_016856819.1:p.Val668=
NM_001291940.2:c.615G>A	NP_001278869.1:p.Val205=
NM_000254.3:c.1836G>A MANE Select	NP_000245.2:p.Val612=