Canonical Allele Identifier: CA349911849

Gene: STAT1

Linked Data

• MyVariant Identifiers: chr2:g.191840558C>A (hg19) ; chr2:g.190975832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190975832C>A , CM000664.2:g.190975832C>A	GRCh38
NC_000002.11:g.191840558C>A , CM000664.1:g.191840558C>A	GRCh37
NC_000002.10:g.191548803C>A	NCBI36
NG_008294.1:g.43419G>T , LRG_111:g.43419G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698141.1:c.2115G>T	ENSP00000513582.1:p.Glu705Asp
ENST00000698142.1:c.2055G>T	ENSP00000513583.1:p.Glu685Asp
ENST00000698143.1:n.3988G>T
ENST00000698144.1:c.*1441G>T	ENSP00000513584.1:n.*1441G>T
ENST00000698145.1:c.634-6083G>T	ENSP00000513585.1:n.634-6083G>T
ENST00000698146.1:c.*1865G>T	ENSP00000513586.1:n.*1865G>T
ENST00000698147.1:n.3635G>T
ENST00000698148.1:n.3965G>T
ENST00000698149.1:c.2115G>T	ENSP00000513587.1:p.Glu705Asp
ENST00000698150.1:n.2046G>T
ENST00000361099.8:c.2115G>T MANE Select	ENSP00000354394.4:p.Glu705Asp
ENST00000415035.2:c.2115G>T	ENSP00000388240.2:p.Glu705Asp
ENST00000423282.2:c.*241G>T	ENSP00000388772.2:n.*241G>T
ENST00000452281.6:c.*1441G>T	ENSP00000394512.1:n.*1441G>T
ENST00000540176.6:c.2115G>T	ENSP00000438703.2:p.Glu705Asp
ENST00000673734.1:c.*1282G>T	ENSP00000501040.1:n.*1282G>T
ENST00000673762.1:n.614G>T
ENST00000673777.1:c.2109G>T	ENSP00000500982.1:p.Glu703Asp
ENST00000673816.1:c.2115G>T	ENSP00000501127.1:p.Glu705Asp
ENST00000673832.1:n.667G>T
ENST00000673841.1:c.2115G>T	ENSP00000501225.1:p.Glu705Asp
ENST00000673847.1:c.2115G>T	ENSP00000501185.1:p.Glu705Asp
ENST00000673858.1:c.*1441G>T	ENSP00000501196.1:n.*1441G>T
ENST00000673863.1:c.824G>T	ENSP00000501286.1:n.824G>T
ENST00000673885.1:c.*301G>T	ENSP00000501159.1:n.*301G>T
ENST00000673942.1:c.2109G>T	ENSP00000501145.1:p.Glu703Asp
ENST00000673952.1:c.2115G>T	ENSP00000501115.1:p.Glu705Asp
ENST00000674028.1:n.568G>T
ENST00000674080.1:c.2115G>T	ENSP00000501164.1:p.Glu705Asp
ENST00000674081.1:c.2115G>T	ENSP00000501289.1:p.Glu705Asp
ENST00000674153.1:c.*283G>T	ENSP00000501120.1:n.*283G>T
ENST00000361099.7:c.2115G>T	ENSP00000354394.3:p.Glu705Asp
ENST00000392322.7:c.2115G>T	ENSP00000376136.3:p.Glu705Asp
ENST00000392323.6:c.2121G>T	ENSP00000376137.2:p.Glu707Asp
ENST00000409465.5:c.2115G>T	ENSP00000386244.1:p.Glu705Asp
ENST00000423282.1:c.139G>T
ENST00000452281.5:c.*1441G>T	ENSP00000394512.1:n.*1441G>T
ENST00000540176.5:c.*1441G>T	ENSP00000438703.1:n.*1441G>T
NM_007315.3:c.2115G>T , LRG_111t1:c.2115G>T	NP_009330.1:p.Glu705Asp
NM_139266.2:c.2115G>T	NP_644671.1:p.Glu705Asp
XM_006712718.1:c.2115G>T	XP_006712781.1:p.Glu705Asp
XM_017004783.2:c.2121G>T	XP_016860272.1:p.Glu707Asp
XR_001738914.2:n.2508G>T
XR_001738915.2:n.2450G>T
NM_007315.4:c.2115G>T MANE Select	NP_009330.1:p.Glu705Asp
NM_001384880.1:c.2055G>T	NP_001371809.1:p.Glu685Asp
NM_001384881.1:c.2121G>T	NP_001371810.1:p.Glu707Asp
NM_001384882.1:c.2109G>T	NP_001371811.1:p.Glu703Asp
NM_001384883.1:c.2016G>T	NP_001371812.1:p.Glu672Asp
NM_001384884.1:c.1963-964G>T	NP_001371813.1:n.1963-964G>T
NM_001384885.1:c.1956G>T	NP_001371814.1:p.Glu652Asp
NM_001384886.1:c.2139G>T	NP_001371815.1:p.Glu713Asp
NM_001384887.1:c.2022G>T	NP_001371816.1:p.Glu674Asp
NM_001384888.1:c.2085G>T	NP_001371817.1:p.Glu695Asp
NM_001384889.1:c.2115G>T	NP_001371818.1:p.Glu705Asp
NM_001384890.1:c.2025G>T	NP_001371819.1:p.Glu675Asp
NM_001384891.1:c.2151G>T	NP_001371820.1:p.Glu717Asp
NM_139266.3:c.2115G>T	NP_644671.1:p.Glu705Asp