Canonical Allele Identifier: CA249972

Gene: MTR

Linked Data

• ClinVar Variation Id: 14278
• ClinVar RCV Id: RCV000015348 ; RCV000162189 ; RCV000210576 ; RCV000414734 ; RCV000778974 ; RCV001003947
• dbSNP Id: rs121913578
• ExAC: 1:237058770 C / T
• gnomAD v2: 1-237058770-C-T
• gnomAD v3: 1-236895470-C-T
• gnomAD v4: 1-236895470-C-T
• MyVariant Identifiers: chr1:g.237058770C>T (hg19) ; chr1:g.236895470C>T (hg38)
• PubMed: PMID:8968736 ; PMID:12068375 ; PMID:23891399 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236895470C>T , CM000663.2:g.236895470C>T	GRCh38
NC_000001.10:g.237058770C>T , CM000663.1:g.237058770C>T	GRCh37
NC_000001.9:g.235125393C>T	NCBI36
NG_008959.1:g.105190C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.3518C>T MANE Select	ENSP00000355536.5:p.Pro1173Leu
ENST00000470570.2:n.4248C>T
ENST00000535889.6:c.3365C>T	ENSP00000441845.1:p.Pro1122Leu
ENST00000650888.1:c.*2560C>T	ENSP00000498393.1:n.*2560C>T
ENST00000651455.1:c.*2262C>T	ENSP00000498963.1:n.*2262C>T
ENST00000674797.2:c.3170C>T	ENSP00000502299.2:p.Pro1057Leu
ENST00000679569.1:n.6645C>T
ENST00000679842.1:c.3329C>T	ENSP00000506109.1:p.Pro1110Leu
ENST00000680454.1:n.6775C>T
ENST00000681102.1:c.3338C>T	ENSP00000505600.1:p.Pro1113Leu
ENST00000681177.1:c.3080C>T	ENSP00000506327.1:p.Pro1027Leu
ENST00000681937.1:n.3712C>T
ENST00000366576.3:c.2180C>T	ENSP00000355535.3:p.Pro727Leu
ENST00000366577.9:c.3518C>T	ENSP00000355536.5:p.Pro1173Leu
ENST00000470570.1:n.1130C>T
ENST00000535889.5:c.3365C>T	ENSP00000441845.1:p.Pro1122Leu
NM_000254.2:c.3518C>T	NP_000245.2:p.Pro1173Leu
NM_001291939.1:c.3365C>T	NP_001278868.1:p.Pro1122Leu
NM_001291940.1:c.2297C>T	NP_001278869.1:p.Pro766Leu
XM_005273141.3:c.3515C>T	XP_005273198.1:p.Pro1172Leu
XM_006711770.1:c.2582C>T	XP_006711833.1:p.Pro861Leu
XM_011544193.1:c.3329C>T	XP_011542495.1:p.Pro1110Leu
XM_011544194.1:c.3686C>T	XP_011542496.1:p.Pro1229Leu
XM_005273141.5:c.3515C>T	XP_005273198.1:p.Pro1172Leu
XM_006711770.3:c.2582C>T	XP_006711833.1:p.Pro861Leu
XM_011544194.3:c.3686C>T	XP_011542496.1:p.Pro1229Leu
XM_017001329.2:c.3533C>T	XP_016856818.1:p.Pro1178Leu
XM_017001330.2:c.3497C>T	XP_016856819.1:p.Pro1166Leu
NM_001291940.2:c.2297C>T	NP_001278869.1:p.Pro766Leu
NM_000254.3:c.3518C>T MANE Select	NP_000245.2:p.Pro1173Leu