Canonical Allele Identifier: CA345391546

Gene: MTR

Linked Data

• gnomAD v4: 1-236829220-C-T
• MyVariant Identifiers: chr1:g.236992520C>T (hg19) ; chr1:g.236829220C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236829220C>T , CM000663.2:g.236829220C>T	GRCh38
NC_000001.10:g.236992520C>T , CM000663.1:g.236992520C>T	GRCh37
NC_000001.9:g.235059143C>T	NCBI36
NG_008959.1:g.38940C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1027C>T MANE Select	ENSP00000355536.5:p.Pro343Ser
ENST00000535889.6:c.1027C>T	ENSP00000441845.1:p.Pro343Ser
ENST00000650888.1:c.*69C>T	ENSP00000498393.1:n.*69C>T
ENST00000651455.1:c.1027C>T	ENSP00000498963.1:p.Pro343Ser
ENST00000674797.2:c.679C>T	ENSP00000502299.2:p.Pro227Ser
ENST00000679569.1:n.1341C>T
ENST00000679842.1:c.1027C>T	ENSP00000506109.1:p.Pro343Ser
ENST00000680454.1:n.1471C>T
ENST00000681102.1:c.1027C>T	ENSP00000505600.1:p.Pro343Ser
ENST00000681177.1:c.1027C>T	ENSP00000506327.1:p.Pro343Ser
ENST00000681937.1:n.1659C>T
ENST00000366577.9:c.1027C>T	ENSP00000355536.5:p.Pro343Ser
ENST00000463959.1:n.1046C>T
ENST00000535889.5:c.1027C>T	ENSP00000441845.1:p.Pro343Ser
NM_000254.2:c.1027C>T	NP_000245.2:p.Pro343Ser
NM_001291939.1:c.1027C>T	NP_001278868.1:p.Pro343Ser
NM_001291940.1:c.-82C>T	NP_001278869.1:n.-82C>T
XM_005273141.3:c.1024C>T	XP_005273198.1:p.Pro342Ser
XM_006711769.2:c.1027C>T	XP_006711832.1:p.Pro343Ser
XM_006711770.1:c.91C>T	XP_006711833.1:p.Pro31Ser
XM_011544193.1:c.1027C>T	XP_011542495.1:p.Pro343Ser
XM_011544194.1:c.1195C>T	XP_011542496.1:p.Pro399Ser
XM_005273141.5:c.1024C>T	XP_005273198.1:p.Pro342Ser
XM_006711770.3:c.91C>T	XP_006711833.1:p.Pro31Ser
XM_011544194.3:c.1195C>T	XP_011542496.1:p.Pro399Ser
XM_017001329.2:c.1195C>T	XP_016856818.1:p.Pro399Ser
XM_017001330.2:c.1195C>T	XP_016856819.1:p.Pro399Ser
NM_001291940.2:c.-82C>T	NP_001278869.1:n.-82C>T
NM_000254.3:c.1027C>T MANE Select	NP_000245.2:p.Pro343Ser