Canonical Allele Identifier: CA128934

Gene: STAT1

Linked Data

• ClinVar Variation Id: 30088
• ClinVar RCV Id: RCV000022991 ; RCV001027626
• dbSNP Id: rs387906763
• MyVariant Identifiers: chr2:g.191864373A>G (hg19) ; chr2:g.190999647A>G (hg38)
• PubMed: PMID:21727188

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190999647A>G , CM000664.2:g.190999647A>G	GRCh38
NC_000002.11:g.191864373A>G , CM000664.1:g.191864373A>G	GRCh37
NC_000002.10:g.191572618A>G	NCBI36
NG_008294.1:g.19604T>C , LRG_111:g.19604T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698141.1:c.520T>C	ENSP00000513582.1:p.Cys174Arg
ENST00000698142.1:c.520T>C	ENSP00000513583.1:p.Cys174Arg
ENST00000698143.1:n.680T>C
ENST00000698144.1:c.520T>C	ENSP00000513584.1:p.Cys174Arg
ENST00000698145.1:c.520T>C	ENSP00000513585.1:p.Cys174Arg
ENST00000698146.1:c.*270T>C	ENSP00000513586.1:n.*270T>C
ENST00000698147.1:n.847T>C
ENST00000698148.1:n.847T>C
ENST00000698149.1:c.520T>C	ENSP00000513587.1:p.Cys174Arg
ENST00000698151.1:n.847T>C
ENST00000361099.8:c.520T>C MANE Select	ENSP00000354394.4:p.Cys174Arg
ENST00000415035.2:c.520T>C	ENSP00000388240.2:p.Cys174Arg
ENST00000423282.2:c.128+10229T>C	ENSP00000388772.2:n.128+10229T>C
ENST00000424722.6:c.430T>C	ENSP00000402548.2:p.Cys144Arg
ENST00000452281.6:c.520T>C	ENSP00000394512.1:p.Cys174Arg
ENST00000540176.6:c.520T>C	ENSP00000438703.2:p.Cys174Arg
ENST00000673638.1:n.819T>C
ENST00000673734.1:c.520T>C	ENSP00000501040.1:p.Cys174Arg
ENST00000673777.1:c.520T>C	ENSP00000500982.1:p.Cys174Arg
ENST00000673816.1:c.520T>C	ENSP00000501127.1:p.Cys174Arg
ENST00000673841.1:c.520T>C	ENSP00000501225.1:p.Cys174Arg
ENST00000673847.1:c.520T>C	ENSP00000501185.1:p.Cys174Arg
ENST00000673858.1:c.520T>C	ENSP00000501196.1:p.Cys174Arg
ENST00000673859.1:n.819T>C
ENST00000673863.1:c.38+10229T>C	ENSP00000501286.1:n.38+10229T>C
ENST00000673885.1:c.520T>C	ENSP00000501159.1:p.Cys174Arg
ENST00000673942.1:c.520T>C	ENSP00000501145.1:p.Cys174Arg
ENST00000673952.1:c.520T>C	ENSP00000501115.1:p.Cys174Arg
ENST00000674028.1:n.310+13874T>C
ENST00000674080.1:c.520T>C	ENSP00000501164.1:p.Cys174Arg
ENST00000674081.1:c.520T>C	ENSP00000501289.1:p.Cys174Arg
ENST00000674153.1:c.520T>C	ENSP00000501120.1:p.Cys174Arg
ENST00000361099.7:c.520T>C	ENSP00000354394.3:p.Cys174Arg
ENST00000392322.7:c.520T>C	ENSP00000376136.3:p.Cys174Arg
ENST00000392323.6:c.526T>C	ENSP00000376137.2:p.Cys176Arg
ENST00000409465.5:c.520T>C	ENSP00000386244.1:p.Cys174Arg
ENST00000424722.5:c.520T>C	ENSP00000402548.1:p.Cys174Arg
ENST00000452281.5:c.520T>C	ENSP00000394512.1:p.Cys174Arg
ENST00000540176.5:c.520T>C	ENSP00000438703.1:p.Cys174Arg
NM_007315.3:c.520T>C , LRG_111t1:c.520T>C	NP_009330.1:p.Cys174Arg
NM_139266.2:c.520T>C	NP_644671.1:p.Cys174Arg
XM_006712718.1:c.520T>C	XP_006712781.1:p.Cys174Arg
XM_017004783.2:c.526T>C	XP_016860272.1:p.Cys176Arg
XR_001738914.2:n.913T>C
XR_001738915.2:n.855T>C
NM_007315.4:c.520T>C MANE Select	NP_009330.1:p.Cys174Arg
NM_001384880.1:c.520T>C	NP_001371809.1:p.Cys174Arg
NM_001384881.1:c.526T>C	NP_001371810.1:p.Cys176Arg
NM_001384882.1:c.520T>C	NP_001371811.1:p.Cys174Arg
NM_001384883.1:c.513T>C	NP_001371812.1:p.Asn171=
NM_001384884.1:c.526T>C	NP_001371813.1:p.Cys176Arg
NM_001384885.1:c.520T>C	NP_001371814.1:p.Cys174Arg
NM_001384886.1:c.520T>C	NP_001371815.1:p.Cys174Arg
NM_001384887.1:c.520T>C	NP_001371816.1:p.Cys174Arg
NM_001384888.1:c.520T>C	NP_001371817.1:p.Cys174Arg
NM_001384889.1:c.520T>C	NP_001371818.1:p.Cys174Arg
NM_001384890.1:c.430T>C	NP_001371819.1:p.Cys144Arg
NM_001384891.1:c.556T>C	NP_001371820.1:p.Cys186Arg
NM_139266.3:c.520T>C	NP_644671.1:p.Cys174Arg