Canonical Allele Identifier: CA345391867

Gene: MTR

Linked Data

• ClinVar Variation Id: 534572
• ClinVar RCV Id: RCV000642168
• dbSNP Id: rs1286773616
• gnomAD v2: 1-236992560-T-C
• gnomAD v4: 1-236829260-T-C
• MyVariant Identifiers: chr1:g.236992560T>C (hg19) ; chr1:g.236829260T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829260T>C , CM000663.2:g.236829260T>C	GRCh38
NC_000001.10:g.236992560T>C , CM000663.1:g.236992560T>C	GRCh37
NC_000001.9:g.235059183T>C	NCBI36
NG_008959.1:g.38980T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1067T>C MANE Select	ENSP00000355536.5:p.Leu356Ser
ENST00000535889.6:c.1067T>C	ENSP00000441845.1:p.Leu356Ser
ENST00000650888.1:c.*109T>C	ENSP00000498393.1:n.*109T>C
ENST00000651455.1:c.1067T>C	ENSP00000498963.1:p.Leu356Ser
ENST00000674797.2:c.719T>C	ENSP00000502299.2:p.Leu240Ser
ENST00000679569.1:n.1381T>C
ENST00000679842.1:c.1067T>C	ENSP00000506109.1:p.Leu356Ser
ENST00000680454.1:n.1511T>C
ENST00000681102.1:c.1067T>C	ENSP00000505600.1:p.Leu356Ser
ENST00000681177.1:c.1067T>C	ENSP00000506327.1:p.Leu356Ser
ENST00000681937.1:n.1699T>C
ENST00000366577.9:c.1067T>C	ENSP00000355536.5:p.Leu356Ser
ENST00000463959.1:n.1086T>C
ENST00000535889.5:c.1067T>C	ENSP00000441845.1:p.Leu356Ser
NM_000254.2:c.1067T>C	NP_000245.2:p.Leu356Ser
NM_001291939.1:c.1067T>C	NP_001278868.1:p.Leu356Ser
NM_001291940.1:c.-42T>C	NP_001278869.1:n.-42T>C
XM_005273141.3:c.1064T>C	XP_005273198.1:p.Leu355Ser
XM_006711769.2:c.1067T>C	XP_006711832.1:p.Leu356Ser
XM_006711770.1:c.131T>C	XP_006711833.1:p.Leu44Ser
XM_011544193.1:c.1067T>C	XP_011542495.1:p.Leu356Ser
XM_011544194.1:c.1235T>C	XP_011542496.1:p.Leu412Ser
XM_005273141.5:c.1064T>C	XP_005273198.1:p.Leu355Ser
XM_006711770.3:c.131T>C	XP_006711833.1:p.Leu44Ser
XM_011544194.3:c.1235T>C	XP_011542496.1:p.Leu412Ser
XM_017001329.2:c.1235T>C	XP_016856818.1:p.Leu412Ser
XM_017001330.2:c.1235T>C	XP_016856819.1:p.Leu412Ser
NM_001291940.2:c.-42T>C	NP_001278869.1:n.-42T>C
NM_000254.3:c.1067T>C MANE Select	NP_000245.2:p.Leu356Ser