Canonical Allele Identifier: CA529533184

Gene: MTR

Linked Data

• dbSNP Id: rs757358617
• gnomAD v2: 1-237044144-G-C
• gnomAD v4: 1-236880844-G-C
• MyVariant Identifiers: chr1:g.237044144G>C (hg19) ; chr1:g.236880844G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236880844G>C , CM000663.2:g.236880844G>C	GRCh38
NC_000001.10:g.237044144G>C , CM000663.1:g.237044144G>C	GRCh37
NC_000001.9:g.235110767G>C	NCBI36
NG_008959.1:g.90564G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2676+8G>C MANE Select	ENSP00000355536.5:n.2676+8G>C
ENST00000535889.6:c.2523+8G>C	ENSP00000441845.1:n.2523+8G>C
ENST00000650888.1:c.*1718+8G>C	ENSP00000498393.1:n.*1718+8G>C
ENST00000651455.1:c.*1420+8G>C	ENSP00000498963.1:n.*1420+8G>C
ENST00000674797.2:c.2328+8G>C	ENSP00000502299.2:n.2328+8G>C
ENST00000679569.1:n.2990+8G>C
ENST00000679842.1:c.2487+8G>C	ENSP00000506109.1:n.2487+8G>C
ENST00000680454.1:n.3120+8G>C
ENST00000681102.1:c.2496+8G>C	ENSP00000505600.1:n.2496+8G>C
ENST00000681177.1:c.2238+8G>C	ENSP00000506327.1:n.2238+8G>C
ENST00000681937.1:n.2870+8G>C
ENST00000366576.3:c.1338+8G>C	ENSP00000355535.3:n.1338+8G>C
ENST00000366577.9:c.2676+8G>C	ENSP00000355536.5:n.2676+8G>C
ENST00000535889.5:c.2523+8G>C	ENSP00000441845.1:n.2523+8G>C
NM_000254.2:c.2676+8G>C	NP_000245.2:n.2676+8G>C
NM_001291939.1:c.2523+8G>C	NP_001278868.1:n.2523+8G>C
NM_001291940.1:c.1455+8G>C	NP_001278869.1:n.1455+8G>C
XM_005273141.3:c.2673+8G>C	XP_005273198.1:n.2673+8G>C
XM_006711769.2:c.2676+8G>C	XP_006711832.1:n.2676+8G>C
XM_006711770.1:c.1740+8G>C	XP_006711833.1:n.1740+8G>C
XM_011544193.1:c.2487+8G>C	XP_011542495.1:n.2487+8G>C
XM_011544194.1:c.2844+8G>C	XP_011542496.1:n.2844+8G>C
XM_005273141.5:c.2673+8G>C	XP_005273198.1:n.2673+8G>C
XM_006711770.3:c.1740+8G>C	XP_006711833.1:n.1740+8G>C
XM_011544194.3:c.2844+8G>C	XP_011542496.1:n.2844+8G>C
XM_017001329.2:c.2691+8G>C	XP_016856818.1:n.2691+8G>C
XM_017001330.2:c.2655+8G>C	XP_016856819.1:n.2655+8G>C
NM_001291940.2:c.1455+8G>C	NP_001278869.1:n.1455+8G>C
NM_000254.3:c.2676+8G>C MANE Select	NP_000245.2:n.2676+8G>C