Canonical Allele Identifier: CA1473672

Gene: MTR

Linked Data

• ClinVar Variation Id: 296550
• ClinVar RCV Id: RCV000385932 ; RCV000418564 ; RCV000642171 ; RCV002504043 ; RCV003736694
• dbSNP Id: rs184332230
• ExAC: 1:236969437 G / A
• gnomAD v2: 1-236969437-G-A
• gnomAD v3: 1-236806137-G-A
• gnomAD v4: 1-236806137-G-A
• MyVariant Identifiers: chr1:g.236969437G>A (hg19) ; chr1:g.236806137G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236806137G>A , CM000663.2:g.236806137G>A	GRCh38
NC_000001.10:g.236969437G>A , CM000663.1:g.236969437G>A	GRCh37
NC_000001.9:g.235036060G>A	NCBI36
NG_008959.1:g.15857G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.250-7G>A MANE Select	ENSP00000355536.5:n.250-7G>A
ENST00000535889.6:c.250-7G>A	ENSP00000441845.1:n.250-7G>A
ENST00000650888.1:c.250-7G>A	ENSP00000498393.1:n.250-7G>A
ENST00000651455.1:c.250-7G>A	ENSP00000498963.1:n.250-7G>A
ENST00000652435.1:c.-99-7G>A	ENSP00000505932.1:n.-99-7G>A
ENST00000674797.2:c.-99-7G>A	ENSP00000502299.2:n.-99-7G>A
ENST00000679569.1:n.564-7G>A
ENST00000679842.1:c.250-7G>A	ENSP00000506109.1:n.250-7G>A
ENST00000680454.1:n.694-7G>A
ENST00000681102.1:c.250-7G>A	ENSP00000505600.1:n.250-7G>A
ENST00000681177.1:c.250-7G>A	ENSP00000506327.1:n.250-7G>A
ENST00000366577.9:c.250-7G>A	ENSP00000355536.5:n.250-7G>A
ENST00000463959.1:n.339-7G>A
ENST00000535889.5:c.250-7G>A	ENSP00000441845.1:n.250-7G>A
NM_000254.2:c.250-7G>A	NP_000245.2:n.250-7G>A
NM_001291939.1:c.250-7G>A	NP_001278868.1:n.250-7G>A
NM_001291940.1:c.-859-7G>A	NP_001278869.1:n.-859-7G>A
XM_005273141.3:c.247-7G>A	XP_005273198.1:n.247-7G>A
XM_006711769.2:c.250-7G>A	XP_006711832.1:n.250-7G>A
XM_011544193.1:c.250-7G>A	XP_011542495.1:n.250-7G>A
XM_011544194.1:c.418-7G>A	XP_011542496.1:n.418-7G>A
XM_005273141.5:c.247-7G>A	XP_005273198.1:n.247-7G>A
XM_011544194.3:c.418-7G>A	XP_011542496.1:n.418-7G>A
XM_017001329.2:c.418-7G>A	XP_016856818.1:n.418-7G>A
XM_017001330.2:c.418-7G>A	XP_016856819.1:n.418-7G>A
NM_001291940.2:c.-859-7G>A	NP_001278869.1:n.-859-7G>A
NM_000254.3:c.250-7G>A MANE Select	NP_000245.2:n.250-7G>A