Canonical Allele Identifier: CA345384692

Gene: MTR

Linked Data

• gnomAD v4: 1-236885212-C-A
• MyVariant Identifiers: chr1:g.237048512C>A (hg19) ; chr1:g.236885212C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000366577.10:c.2768C>A MANE Select	ENSP00000355536.5:p.Ser923Tyr
ENST00000535889.6:c.2615C>A	ENSP00000441845.1:p.Ser872Tyr
ENST00000650888.1:c.*1810C>A	ENSP00000498393.1:n.*1810C>A
ENST00000651455.1:c.*1512C>A	ENSP00000498963.1:n.*1512C>A
ENST00000674797.2:c.2420C>A	ENSP00000502299.2:p.Ser807Tyr
ENST00000679569.1:n.3082C>A
ENST00000679842.1:c.2579C>A	ENSP00000506109.1:p.Ser860Tyr
ENST00000680454.1:n.3212C>A
ENST00000681102.1:c.2588C>A	ENSP00000505600.1:p.Ser863Tyr
ENST00000681177.1:c.2330C>A	ENSP00000506327.1:p.Ser777Tyr
ENST00000681937.1:n.2962C>A
ENST00000366576.3:c.1430C>A	ENSP00000355535.3:p.Ser477Tyr
ENST00000366577.9:c.2768C>A	ENSP00000355536.5:p.Ser923Tyr
ENST00000535889.5:c.2615C>A	ENSP00000441845.1:p.Ser872Tyr
NM_000254.2:c.2768C>A	NP_000245.2:p.Ser923Tyr
NM_001291939.1:c.2615C>A	NP_001278868.1:p.Ser872Tyr
NM_001291940.1:c.1547C>A	NP_001278869.1:p.Ser516Tyr
XM_005273141.3:c.2765C>A	XP_005273198.1:p.Ser922Tyr
XM_006711769.2:c.2768C>A	XP_006711832.1:p.Ser923Tyr
XM_006711770.1:c.1832C>A	XP_006711833.1:p.Ser611Tyr
XM_011544193.1:c.2579C>A	XP_011542495.1:p.Ser860Tyr
XM_011544194.1:c.2936C>A	XP_011542496.1:p.Ser979Tyr
XM_005273141.5:c.2765C>A	XP_005273198.1:p.Ser922Tyr
XM_006711770.3:c.1832C>A	XP_006711833.1:p.Ser611Tyr
XM_011544194.3:c.2936C>A	XP_011542496.1:p.Ser979Tyr
XM_017001329.2:c.2783C>A	XP_016856818.1:p.Ser928Tyr
XM_017001330.2:c.2747C>A	XP_016856819.1:p.Ser916Tyr
NM_001291940.2:c.1547C>A	NP_001278869.1:p.Ser516Tyr
NM_000254.3:c.2768C>A MANE Select	NP_000245.2:p.Ser923Tyr