Canonical Allele Identifier: CA403983201

Gene: TYK2

Linked Data

• gnomAD v4: 19-10352483-G-A
• MyVariant Identifiers: chr19:g.10463159G>A (hg19) ; chr19:g.10352483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10352483G>A , CM000681.2:g.10352483G>A	GRCh38
NC_000019.9:g.10463159G>A , CM000681.1:g.10463159G>A	GRCh37
NC_000019.8:g.10324159G>A	NCBI36
NG_007872.1:g.33090C>T , LRG_121:g.33090C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524470.2:c.*1618C>T	ENSP00000514307.1:n.*1618C>T
ENST00000525976.6:c.3269C>T	ENSP00000434831.2:p.Thr1090Ile
ENST00000527481.3:c.*39C>T	ENSP00000466340.2:n.*39C>T
ENST00000529370.6:n.4645C>T
ENST00000529739.2:n.4078C>T
ENST00000530829.2:c.*2820C>T	ENSP00000436826.2:n.*2820C>T
ENST00000531836.6:c.3269C>T	ENSP00000436175.2:p.Thr1090Ile
ENST00000533334.2:c.*1242+443C>T	ENSP00000432320.2:n.*1242+443C>T
ENST00000534228.2:n.5054+443C>T
ENST00000699354.1:n.1371C>T
ENST00000699355.1:c.*2769C>T	ENSP00000514328.1:n.*2769C>T
ENST00000699356.1:n.4078C>T
ENST00000699357.1:n.5123C>T
ENST00000699358.1:c.3200+443C>T	ENSP00000514329.1:n.3200+443C>T
ENST00000699359.1:c.443C>T
ENST00000699360.1:c.3227C>T	ENSP00000514331.1:p.Thr1076Ile
ENST00000699361.1:n.303C>T
ENST00000699362.1:c.165C>T	ENSP00000514332.1:n.165C>T
ENST00000699363.1:c.165C>T	ENSP00000514333.1:n.165C>T
ENST00000699364.1:n.269C>T
ENST00000699365.1:c.338C>T	ENSP00000514334.1:p.Thr113Ile
ENST00000699366.1:n.111+1331C>T
ENST00000699367.1:n.112-1321C>T
ENST00000699368.1:c.756C>T	ENSP00000514335.1:n.756C>T
ENST00000525621.6:c.3269C>T MANE Select	ENSP00000431885.1:p.Thr1090Ile
ENST00000264818.10:c.3269C>T	ENSP00000264818.6:p.Thr1090Ile
ENST00000524462.5:c.2714C>T	ENSP00000433203.1:p.Thr905Ile
ENST00000525621.5:c.3269C>T	ENSP00000431885.1:p.Thr1090Ile
ENST00000525976.5:c.10C>T
ENST00000527481.2:c.446C>T
ENST00000529422.1:n.116+539C>T
ENST00000529739.1:c.338C>T	ENSP00000436155.1:p.Thr113Ile
ENST00000530220.1:n.331+443C>T
ENST00000530560.5:c.338-1515C>T	ENSP00000465291.1:n.338-1515C>T
ENST00000592137.1:n.423C>T
NM_003331.4:c.3269C>T , LRG_121t1:c.3269C>T	NP_003322.3:p.Thr1090Ile
XM_011528245.1:c.3269C>T	XP_011526547.1:p.Thr1090Ile
XM_011528246.1:c.2972C>T	XP_011526548.1:p.Thr991Ile
XM_011528247.1:c.2972C>T	XP_011526549.1:p.Thr991Ile
XM_011528248.1:c.3200+443C>T	XP_011526550.1:n.3200+443C>T
XM_011528249.1:c.1943C>T	XP_011526551.1:p.Thr648Ile
XM_011528251.1:c.1526C>T	XP_011526553.1:p.Thr509Ile
XM_011528246.3:c.2972C>T	XP_011526548.1:p.Thr991Ile
XM_011528249.2:c.1943C>T	XP_011526551.1:p.Thr648Ile
XR_001753750.1:n.3357+443C>T
XR_001753751.1:n.3821C>T
XR_002958353.1:n.4747C>T
NM_003331.5:c.3269C>T MANE Select	NP_003322.3:p.Thr1090Ile
NM_001385197.1:c.3269C>T	NP_001372126.1:p.Thr1090Ile
NM_001385198.1:c.3168+475C>T	NP_001372127.1:n.3168+475C>T
NM_001385199.1:c.3083C>T	NP_001372128.1:p.Thr1028Ile
NM_001385200.1:c.3266C>T	NP_001372129.1:p.Thr1089Ile
NM_001385201.1:c.3071C>T	NP_001372130.1:p.Thr1024Ile
NM_001385202.1:c.3185C>T	NP_001372131.1:p.Thr1062Ile
NM_001385203.1:c.3350C>T	NP_001372132.1:p.Thr1117Ile
NM_001385204.1:c.3479C>T	NP_001372133.1:p.Thr1160Ile
NM_001385205.1:c.3179C>T	NP_001372134.1:p.Thr1060Ile
NM_001385206.1:c.3143C>T	NP_001372135.1:p.Thr1048Ile
NM_001385207.1:c.3251C>T	NP_001372136.1:p.Thr1084Ile