Canonical Allele Identifier: CA39744889

Gene: MTR

Linked Data

• dbSNP Id: rs967173121
• gnomAD v4: 1-236852419-T-C
• MyVariant Identifiers: chr1:g.237015719T>C (hg19) ; chr1:g.236852419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852419T>C , CM000663.2:g.236852419T>C	GRCh38
NC_000001.10:g.237015719T>C , CM000663.1:g.237015719T>C	GRCh37
NC_000001.9:g.235082342T>C	NCBI36
NG_008959.1:g.62139T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.1696-102T>C MANE Select	ENSP00000355536.5:n.1696-102T>C
ENST00000535889.6:c.1696-102T>C	ENSP00000441845.1:n.1696-102T>C
ENST00000650888.1:c.*738-102T>C	ENSP00000498393.1:n.*738-102T>C
ENST00000651455.1:c.*440-102T>C	ENSP00000498963.1:n.*440-102T>C
ENST00000674797.2:c.1348-102T>C	ENSP00000502299.2:n.1348-102T>C
ENST00000679569.1:n.2010-102T>C
ENST00000679842.1:c.1696-102T>C	ENSP00000506109.1:n.1696-102T>C
ENST00000680454.1:n.2140-102T>C
ENST00000681102.1:c.1516-102T>C	ENSP00000505600.1:n.1516-102T>C
ENST00000681177.1:c.1516-7414T>C	ENSP00000506327.1:n.1516-7414T>C
ENST00000681937.1:n.2148-7414T>C
ENST00000366576.3:c.358-102T>C	ENSP00000355535.3:n.358-102T>C
ENST00000366577.9:c.1696-102T>C	ENSP00000355536.5:n.1696-102T>C
ENST00000463959.1:n.1715-102T>C
ENST00000535889.5:c.1696-102T>C	ENSP00000441845.1:n.1696-102T>C
NM_000254.2:c.1696-102T>C	NP_000245.2:n.1696-102T>C
NM_001291939.1:c.1696-102T>C	NP_001278868.1:n.1696-102T>C
NM_001291940.1:c.475-102T>C	NP_001278869.1:n.475-102T>C
XM_005273141.3:c.1693-102T>C	XP_005273198.1:n.1693-102T>C
XM_006711769.2:c.1696-102T>C	XP_006711832.1:n.1696-102T>C
XM_006711770.1:c.760-102T>C	XP_006711833.1:n.760-102T>C
XM_011544193.1:c.1696-102T>C	XP_011542495.1:n.1696-102T>C
XM_011544194.1:c.1864-102T>C	XP_011542496.1:n.1864-102T>C
XM_005273141.5:c.1693-102T>C	XP_005273198.1:n.1693-102T>C
XM_006711770.3:c.760-102T>C	XP_006711833.1:n.760-102T>C
XM_011544194.3:c.1864-102T>C	XP_011542496.1:n.1864-102T>C
XM_017001329.2:c.1864-102T>C	XP_016856818.1:n.1864-102T>C
XM_017001330.2:c.1864-102T>C	XP_016856819.1:n.1864-102T>C
NM_001291940.2:c.475-102T>C	NP_001278869.1:n.475-102T>C
NM_000254.3:c.1696-102T>C MANE Select	NP_000245.2:n.1696-102T>C