Canonical Allele Identifier: CA1473974

Gene: MTR

Linked Data

• ClinVar Variation Id: 970079
• ClinVar RCV Id: RCV001245582 ; RCV002568626
• dbSNP Id: rs140956566
• ExAC: 1:236992532 C / T
• gnomAD v2: 1-236992532-C-T
• gnomAD v3: 1-236829232-C-T
• gnomAD v4: 1-236829232-C-T
• MyVariant Identifiers: chr1:g.236992532C>T (hg19) ; chr1:g.236829232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829232C>T , CM000663.2:g.236829232C>T	GRCh38
NC_000001.10:g.236992532C>T , CM000663.1:g.236992532C>T	GRCh37
NC_000001.9:g.235059155C>T	NCBI36
NG_008959.1:g.38952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1039C>T MANE Select	ENSP00000355536.5:p.Pro347Ser
ENST00000535889.6:c.1039C>T	ENSP00000441845.1:p.Pro347Ser
ENST00000650888.1:c.*81C>T	ENSP00000498393.1:n.*81C>T
ENST00000651455.1:c.1039C>T	ENSP00000498963.1:p.Pro347Ser
ENST00000674797.2:c.691C>T	ENSP00000502299.2:p.Pro231Ser
ENST00000679569.1:n.1353C>T
ENST00000679842.1:c.1039C>T	ENSP00000506109.1:p.Pro347Ser
ENST00000680454.1:n.1483C>T
ENST00000681102.1:c.1039C>T	ENSP00000505600.1:p.Pro347Ser
ENST00000681177.1:c.1039C>T	ENSP00000506327.1:p.Pro347Ser
ENST00000681937.1:n.1671C>T
ENST00000366577.9:c.1039C>T	ENSP00000355536.5:p.Pro347Ser
ENST00000463959.1:n.1058C>T
ENST00000535889.5:c.1039C>T	ENSP00000441845.1:p.Pro347Ser
NM_000254.2:c.1039C>T	NP_000245.2:p.Pro347Ser
NM_001291939.1:c.1039C>T	NP_001278868.1:p.Pro347Ser
NM_001291940.1:c.-70C>T	NP_001278869.1:n.-70C>T
XM_005273141.3:c.1036C>T	XP_005273198.1:p.Pro346Ser
XM_006711769.2:c.1039C>T	XP_006711832.1:p.Pro347Ser
XM_006711770.1:c.103C>T	XP_006711833.1:p.Pro35Ser
XM_011544193.1:c.1039C>T	XP_011542495.1:p.Pro347Ser
XM_011544194.1:c.1207C>T	XP_011542496.1:p.Pro403Ser
XM_005273141.5:c.1036C>T	XP_005273198.1:p.Pro346Ser
XM_006711770.3:c.103C>T	XP_006711833.1:p.Pro35Ser
XM_011544194.3:c.1207C>T	XP_011542496.1:p.Pro403Ser
XM_017001329.2:c.1207C>T	XP_016856818.1:p.Pro403Ser
XM_017001330.2:c.1207C>T	XP_016856819.1:p.Pro403Ser
NM_001291940.2:c.-70C>T	NP_001278869.1:n.-70C>T
NM_000254.3:c.1039C>T MANE Select	NP_000245.2:p.Pro347Ser