Canonical Allele Identifier: CA423811757

Gene: MTR

Linked Data

• dbSNP Id: rs1236624140
• gnomAD v2: 1-237016268-A-C
• gnomAD v4: 1-236852968-A-C
• MyVariant Identifiers: chr1:g.237016268A>C (hg19) ; chr1:g.236852968A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852968A>C , CM000663.2:g.236852968A>C	GRCh38
NC_000001.10:g.237016268A>C , CM000663.1:g.237016268A>C	GRCh37
NC_000001.9:g.235082891A>C	NCBI36
NG_008959.1:g.62688A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1833A>C MANE Select	ENSP00000355536.5:p.Ile611=
ENST00000535889.6:c.1833A>C	ENSP00000441845.1:p.Ile611=
ENST00000650888.1:c.*875A>C	ENSP00000498393.1:n.*875A>C
ENST00000651455.1:c.*577A>C	ENSP00000498963.1:n.*577A>C
ENST00000674797.2:c.1485A>C	ENSP00000502299.2:p.Ile495=
ENST00000679569.1:n.2147A>C
ENST00000679842.1:c.1833A>C	ENSP00000506109.1:p.Ile611=
ENST00000680454.1:n.2277A>C
ENST00000681102.1:c.1653A>C	ENSP00000505600.1:p.Ile551=
ENST00000681177.1:c.1516-6865A>C	ENSP00000506327.1:n.1516-6865A>C
ENST00000681937.1:n.2148-6865A>C
ENST00000366576.3:c.495A>C	ENSP00000355535.3:p.Ile165=
ENST00000366577.9:c.1833A>C	ENSP00000355536.5:p.Ile611=
ENST00000463959.1:n.1852A>C
ENST00000535889.5:c.1833A>C	ENSP00000441845.1:p.Ile611=
NM_000254.2:c.1833A>C	NP_000245.2:p.Ile611=
NM_001291939.1:c.1833A>C	NP_001278868.1:p.Ile611=
NM_001291940.1:c.612A>C	NP_001278869.1:p.Ile204=
XM_005273141.3:c.1830A>C	XP_005273198.1:p.Ile610=
XM_006711769.2:c.1833A>C	XP_006711832.1:p.Ile611=
XM_006711770.1:c.897A>C	XP_006711833.1:p.Ile299=
XM_011544193.1:c.1833A>C	XP_011542495.1:p.Ile611=
XM_011544194.1:c.2001A>C	XP_011542496.1:p.Ile667=
XM_005273141.5:c.1830A>C	XP_005273198.1:p.Ile610=
XM_006711770.3:c.897A>C	XP_006711833.1:p.Ile299=
XM_011544194.3:c.2001A>C	XP_011542496.1:p.Ile667=
XM_017001329.2:c.2001A>C	XP_016856818.1:p.Ile667=
XM_017001330.2:c.2001A>C	XP_016856819.1:p.Ile667=
NM_001291940.2:c.612A>C	NP_001278869.1:p.Ile204=
NM_000254.3:c.1833A>C MANE Select	NP_000245.2:p.Ile611=