Canonical Allele Identifier: CA345374928

Gene: MTR

Linked Data

• gnomAD v4: 1-236852614-G-T
• MyVariant Identifiers: chr1:g.237015914G>T (hg19) ; chr1:g.236852614G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236852614G>T , CM000663.2:g.236852614G>T	GRCh38
NC_000001.10:g.237015914G>T , CM000663.1:g.237015914G>T	GRCh37
NC_000001.9:g.235082537G>T	NCBI36
NG_008959.1:g.62334G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366577.10:c.1789G>T MANE Select	ENSP00000355536.5:p.Val597Phe
ENST00000535889.6:c.1789G>T	ENSP00000441845.1:p.Val597Phe
ENST00000650888.1:c.*831G>T	ENSP00000498393.1:n.*831G>T
ENST00000651455.1:c.*533G>T	ENSP00000498963.1:n.*533G>T
ENST00000674797.2:c.1441G>T	ENSP00000502299.2:p.Val481Phe
ENST00000679569.1:n.2103G>T
ENST00000679842.1:c.1789G>T	ENSP00000506109.1:p.Val597Phe
ENST00000680454.1:n.2233G>T
ENST00000681102.1:c.1609G>T	ENSP00000505600.1:p.Val537Phe
ENST00000681177.1:c.1516-7219G>T	ENSP00000506327.1:n.1516-7219G>T
ENST00000681937.1:n.2148-7219G>T
ENST00000366576.3:c.451G>T	ENSP00000355535.3:p.Val151Phe
ENST00000366577.9:c.1789G>T	ENSP00000355536.5:p.Val597Phe
ENST00000463959.1:n.1808G>T
ENST00000535889.5:c.1789G>T	ENSP00000441845.1:p.Val597Phe
NM_000254.2:c.1789G>T	NP_000245.2:p.Val597Phe
NM_001291939.1:c.1789G>T	NP_001278868.1:p.Val597Phe
NM_001291940.1:c.568G>T	NP_001278869.1:p.Val190Phe
XM_005273141.3:c.1786G>T	XP_005273198.1:p.Val596Phe
XM_006711769.2:c.1789G>T	XP_006711832.1:p.Val597Phe
XM_006711770.1:c.853G>T	XP_006711833.1:p.Val285Phe
XM_011544193.1:c.1789G>T	XP_011542495.1:p.Val597Phe
XM_011544194.1:c.1957G>T	XP_011542496.1:p.Val653Phe
XM_005273141.5:c.1786G>T	XP_005273198.1:p.Val596Phe
XM_006711770.3:c.853G>T	XP_006711833.1:p.Val285Phe
XM_011544194.3:c.1957G>T	XP_011542496.1:p.Val653Phe
XM_017001329.2:c.1957G>T	XP_016856818.1:p.Val653Phe
XM_017001330.2:c.1957G>T	XP_016856819.1:p.Val653Phe
NM_001291940.2:c.568G>T	NP_001278869.1:p.Val190Phe
NM_000254.3:c.1789G>T MANE Select	NP_000245.2:p.Val597Phe