Canonical Allele Identifier: CA345384695

Gene: MTR

Linked Data

• MyVariant Identifiers: chr1:g.237048512C>T (hg19) ; chr1:g.236885212C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236885212C>T , CM000663.2:g.236885212C>T	GRCh38
NC_000001.10:g.237048512C>T , CM000663.1:g.237048512C>T	GRCh37
NC_000001.9:g.235115135C>T	NCBI36
NG_008959.1:g.94932C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2768C>T MANE Select	ENSP00000355536.5:p.Ser923Phe
ENST00000535889.6:c.2615C>T	ENSP00000441845.1:p.Ser872Phe
ENST00000650888.1:c.*1810C>T	ENSP00000498393.1:n.*1810C>T
ENST00000651455.1:c.*1512C>T	ENSP00000498963.1:n.*1512C>T
ENST00000674797.2:c.2420C>T	ENSP00000502299.2:p.Ser807Phe
ENST00000679569.1:n.3082C>T
ENST00000679842.1:c.2579C>T	ENSP00000506109.1:p.Ser860Phe
ENST00000680454.1:n.3212C>T
ENST00000681102.1:c.2588C>T	ENSP00000505600.1:p.Ser863Phe
ENST00000681177.1:c.2330C>T	ENSP00000506327.1:p.Ser777Phe
ENST00000681937.1:n.2962C>T
ENST00000366576.3:c.1430C>T	ENSP00000355535.3:p.Ser477Phe
ENST00000366577.9:c.2768C>T	ENSP00000355536.5:p.Ser923Phe
ENST00000535889.5:c.2615C>T	ENSP00000441845.1:p.Ser872Phe
NM_000254.2:c.2768C>T	NP_000245.2:p.Ser923Phe
NM_001291939.1:c.2615C>T	NP_001278868.1:p.Ser872Phe
NM_001291940.1:c.1547C>T	NP_001278869.1:p.Ser516Phe
XM_005273141.3:c.2765C>T	XP_005273198.1:p.Ser922Phe
XM_006711769.2:c.2768C>T	XP_006711832.1:p.Ser923Phe
XM_006711770.1:c.1832C>T	XP_006711833.1:p.Ser611Phe
XM_011544193.1:c.2579C>T	XP_011542495.1:p.Ser860Phe
XM_011544194.1:c.2936C>T	XP_011542496.1:p.Ser979Phe
XM_005273141.5:c.2765C>T	XP_005273198.1:p.Ser922Phe
XM_006711770.3:c.1832C>T	XP_006711833.1:p.Ser611Phe
XM_011544194.3:c.2936C>T	XP_011542496.1:p.Ser979Phe
XM_017001329.2:c.2783C>T	XP_016856818.1:p.Ser928Phe
XM_017001330.2:c.2747C>T	XP_016856819.1:p.Ser916Phe
NM_001291940.2:c.1547C>T	NP_001278869.1:p.Ser516Phe
NM_000254.3:c.2768C>T MANE Select	NP_000245.2:p.Ser923Phe