Canonical Allele Identifier: CA430334180

Gene: STAT1

Linked Data

• dbSNP Id: rs1085307649
• MyVariant Identifiers: chr2:g.191859855G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190995129G>A , CM000664.2:g.190995129G>A	GRCh38
NC_000002.11:g.191859855G>A , CM000664.1:g.191859855G>A	GRCh37
NC_000002.10:g.191568100G>A	NCBI36
NG_008294.1:g.24122C>T , LRG_111:g.24122C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698141.1:c.876C>T	ENSP00000513582.1:p.Asp292=
ENST00000698142.1:c.876C>T	ENSP00000513583.1:p.Asp292=
ENST00000698143.1:n.1036C>T
ENST00000698144.1:c.*202C>T	ENSP00000513584.1:n.*202C>T
ENST00000698145.1:c.633+3088C>T	ENSP00000513585.1:n.633+3088C>T
ENST00000698146.1:c.*626C>T	ENSP00000513586.1:n.*626C>T
ENST00000698147.1:n.1203C>T
ENST00000698148.1:n.1203C>T
ENST00000698149.1:c.876C>T	ENSP00000513587.1:p.Asp292=
ENST00000698151.1:n.1203C>T
ENST00000361099.8:c.876C>T MANE Select	ENSP00000354394.4:p.Asp292=
ENST00000415035.2:c.876C>T	ENSP00000388240.2:p.Asp292=
ENST00000423282.2:c.128+14747C>T	ENSP00000388772.2:n.128+14747C>T
ENST00000424722.6:c.786C>T	ENSP00000402548.2:p.Asp262=
ENST00000452281.6:c.*202C>T	ENSP00000394512.1:n.*202C>T
ENST00000540176.6:c.876C>T	ENSP00000438703.2:p.Asp292=
ENST00000673638.1:n.1175C>T
ENST00000673734.1:c.*43C>T	ENSP00000501040.1:n.*43C>T
ENST00000673777.1:c.876C>T	ENSP00000500982.1:p.Asp292=
ENST00000673816.1:c.876C>T	ENSP00000501127.1:p.Asp292=
ENST00000673841.1:c.876C>T	ENSP00000501225.1:p.Asp292=
ENST00000673847.1:c.876C>T	ENSP00000501185.1:p.Asp292=
ENST00000673858.1:c.*202C>T	ENSP00000501196.1:n.*202C>T
ENST00000673859.1:n.1175C>T
ENST00000673863.1:c.39-11371C>T	ENSP00000501286.1:n.39-11371C>T
ENST00000673885.1:c.876C>T	ENSP00000501159.1:p.Asp292=
ENST00000673942.1:c.876C>T	ENSP00000501145.1:p.Asp292=
ENST00000673952.1:c.876C>T	ENSP00000501115.1:p.Asp292=
ENST00000674028.1:n.311-18088C>T
ENST00000674080.1:c.876C>T	ENSP00000501164.1:p.Asp292=
ENST00000674081.1:c.876C>T	ENSP00000501289.1:p.Asp292=
ENST00000674153.1:c.876C>T	ENSP00000501120.1:p.Asp292=
ENST00000361099.7:c.876C>T	ENSP00000354394.3:p.Asp292=
ENST00000392322.7:c.876C>T	ENSP00000376136.3:p.Asp292=
ENST00000392323.6:c.882C>T	ENSP00000376137.2:p.Asp294=
ENST00000409465.5:c.876C>T	ENSP00000386244.1:p.Asp292=
ENST00000452281.5:c.*202C>T	ENSP00000394512.1:n.*202C>T
ENST00000540176.5:c.*202C>T	ENSP00000438703.1:n.*202C>T
NM_007315.3:c.876C>T , LRG_111t1:c.876C>T	NP_009330.1:p.Asp292=
NM_139266.2:c.876C>T	NP_644671.1:p.Asp292=
XM_006712718.1:c.876C>T	XP_006712781.1:p.Asp292=
XM_017004783.2:c.882C>T	XP_016860272.1:p.Asp294=
XR_001738914.2:n.1269C>T
XR_001738915.2:n.1211C>T
NM_007315.4:c.876C>T MANE Select	NP_009330.1:p.Asp292=
NM_001384880.1:c.876C>T	NP_001371809.1:p.Asp292=
NM_001384881.1:c.882C>T	NP_001371810.1:p.Asp294=
NM_001384882.1:c.876C>T	NP_001371811.1:p.Asp292=
NM_001384883.1:c.777C>T	NP_001371812.1:p.Asp259=
NM_001384884.1:c.882C>T	NP_001371813.1:p.Asp294=
NM_001384885.1:c.785+2727C>T	NP_001371814.1:n.785+2727C>T
NM_001384886.1:c.876C>T	NP_001371815.1:p.Asp292=
NM_001384887.1:c.876C>T	NP_001371816.1:p.Asp292=
NM_001384888.1:c.876C>T	NP_001371817.1:p.Asp292=
NM_001384889.1:c.876C>T	NP_001371818.1:p.Asp292=
NM_001384890.1:c.786C>T	NP_001371819.1:p.Asp262=
NM_001384891.1:c.912C>T	NP_001371820.1:p.Asp304=
NM_139266.3:c.876C>T	NP_644671.1:p.Asp292=