Canonical Allele Identifier: CA1283808

Gene: SMG7

Linked Data

• dbSNP Id: rs761825268
• ExAC: 1:183495733 A / T
• gnomAD v2: 1-183495733-A-T
• COSMIC: COSM1491845 ; COSM1491846
• MyVariant Identifiers: chr1:g.183495733A>T (hg19) ; chr1:g.183526598A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.183526598A>T , CM000663.2:g.183526598A>T	GRCh38
NC_000001.10:g.183495733A>T , CM000663.1:g.183495733A>T	GRCh37
NC_000001.9:g.181762356A>T	NCBI36
NG_029808.1:g.59228A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000685780.1:c.402A>T	ENSP00000508915.1:p.Leu134Phe
ENST00000688051.1:c.315A>T MANE Select	ENSP00000510175.1:p.Leu105Phe
ENST00000347615.6:c.315A>T	ENSP00000340766.2:p.Leu105Phe
ENST00000367537.7:c.402A>T	ENSP00000356507.3:p.Leu134Phe
ENST00000419169.5:c.189A>T	ENSP00000388390.1:p.Leu63Phe
ENST00000440812.7:c.315A>T	ENSP00000410254.3:p.Leu105Phe
ENST00000444547.6:c.*155A>T	ENSP00000400220.2:n.*155A>T
ENST00000507406.1:n.70A>T
ENST00000507469.5:c.315A>T	ENSP00000425133.1:p.Leu105Phe
ENST00000507691.6:c.402A>T	ENSP00000422742.3:p.Leu134Phe
ENST00000508461.5:c.189A>T	ENSP00000426915.1:p.Leu63Phe
ENST00000515829.6:c.315A>T	ENSP00000421358.2:p.Leu105Phe
NM_001174061.1:c.189A>T	NP_001167532.1:p.Leu63Phe
NM_173156.2:c.315A>T	NP_775179.1:p.Leu105Phe
NM_201568.2:c.315A>T	NP_963862.1:p.Leu105Phe
NM_201569.2:c.315A>T	NP_963863.2:p.Leu105Phe
XM_005245648.2:c.402A>T	XP_005245705.1:p.Leu134Phe
XM_005245649.2:c.402A>T	XP_005245706.1:p.Leu134Phe
XM_005245652.2:c.315A>T	XP_005245709.1:p.Leu105Phe
XM_005245653.3:c.261A>T	XP_005245710.1:p.Leu87Phe
XM_006711676.2:c.402A>T	XP_006711739.1:p.Leu134Phe
XM_006711678.2:c.315A>T	XP_006711741.1:p.Leu105Phe
XM_011510205.1:c.402A>T	XP_011508507.1:p.Leu134Phe
XM_011510206.1:c.402A>T	XP_011508508.1:p.Leu134Phe
XM_011510207.1:c.261A>T	XP_011508509.1:p.Leu87Phe
XM_011510208.1:c.402A>T	XP_011508510.1:p.Leu134Phe
XM_011510209.1:c.402A>T	XP_011508511.1:p.Leu134Phe
XM_011510210.1:c.189A>T	XP_011508512.1:p.Leu63Phe
XM_011510211.1:c.-797A>T	XP_011508513.1:n.-797A>T
NM_001331007.1:c.402A>T	NP_001317936.1:p.Leu134Phe
NM_001350219.1:c.402A>T	NP_001337148.1:p.Leu134Phe
NM_001350220.1:c.402A>T	NP_001337149.1:p.Leu134Phe
NM_001350221.1:c.402A>T	NP_001337150.1:p.Leu134Phe
NM_001350222.1:c.-691A>T	NP_001337151.1:n.-691A>T
XM_005245649.4:c.402A>T	XP_005245706.1:p.Leu134Phe
XM_005245652.3:c.315A>T	XP_005245709.1:p.Leu105Phe
XM_005245653.5:c.261A>T	XP_005245710.1:p.Leu87Phe
XM_006711678.3:c.315A>T	XP_006711741.1:p.Leu105Phe
XM_011510205.3:c.402A>T	XP_011508507.1:p.Leu134Phe
XM_011510206.3:c.402A>T	XP_011508508.1:p.Leu134Phe
XM_011510207.3:c.261A>T	XP_011508509.1:p.Leu87Phe
XM_011510208.3:c.402A>T	XP_011508510.1:p.Leu134Phe
XM_011510209.3:c.402A>T	XP_011508511.1:p.Leu134Phe
XM_011510210.2:c.189A>T	XP_011508512.1:p.Leu63Phe
XM_017002968.2:c.189A>T	XP_016858457.1:p.Leu63Phe
XM_017002969.1:c.-691A>T	XP_016858458.1:n.-691A>T
XM_017002970.1:c.-615A>T	XP_016858459.1:n.-615A>T
NM_001174061.2:c.189A>T	NP_001167532.1:p.Leu63Phe
NM_001331007.2:c.402A>T	NP_001317936.1:p.Leu134Phe
NM_001350219.2:c.402A>T	NP_001337148.1:p.Leu134Phe
NM_001350220.2:c.402A>T	NP_001337149.1:p.Leu134Phe
NM_001350221.2:c.402A>T	NP_001337150.1:p.Leu134Phe
NM_001350222.2:c.-691A>T	NP_001337151.1:n.-691A>T
NM_001375584.1:c.315A>T MANE Select	NP_001362513.1:p.Leu105Phe
NM_001375585.1:c.315A>T	NP_001362514.1:p.Leu105Phe
NM_173156.3:c.315A>T	NP_775179.1:p.Leu105Phe
NM_201568.3:c.315A>T	NP_963862.1:p.Leu105Phe
NM_201569.3:c.315A>T	NP_963863.2:p.Leu105Phe
NM_001394133.1:c.402A>T	NP_001381062.1:p.Leu134Phe
NM_001394134.1:c.402A>T	NP_001381063.1:p.Leu134Phe
NM_001394135.1:c.402A>T	NP_001381064.1:p.Leu134Phe
NM_001394136.1:c.402A>T	NP_001381065.1:p.Leu134Phe
NM_001394137.1:c.189A>T	NP_001381066.1:p.Leu63Phe
NM_001394138.1:c.402A>T	NP_001381067.1:p.Leu134Phe
NM_001394139.1:c.402A>T	NP_001381068.1:p.Leu134Phe
NM_001394140.1:c.261A>T	NP_001381069.1:p.Leu87Phe
NM_001394141.1:c.189A>T	NP_001381070.1:p.Leu63Phe
NM_001394142.1:c.189A>T	NP_001381071.1:p.Leu63Phe
NM_001394143.1:c.189A>T	NP_001381072.1:p.Leu63Phe
NM_001394144.1:c.147A>T	NP_001381073.1:p.Leu49Phe
NM_001394145.1:c.261A>T	NP_001381074.1:p.Leu87Phe
NM_001394146.1:c.261A>T	NP_001381075.1:p.Leu87Phe
NM_001394147.1:c.189A>T	NP_001381076.1:p.Leu63Phe