Canonical Allele Identifier: CA361958952

Gene: ITK

Linked Data

• MyVariant Identifiers: chr5:g.156668691G>T (hg19) ; chr5:g.157241681G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157241681G>T , CM000667.2:g.157241681G>T	GRCh38
NC_000005.9:g.156668691G>T , CM000667.1:g.156668691G>T	GRCh37
NC_000005.8:g.156601269G>T	NCBI36
NG_016276.1:g.65785G>T , LRG_189:g.65785G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696962.1:c.887G>T	ENSP00000513001.1:p.Trp296Leu
ENST00000422843.8:c.1021G>T MANE Select	ENSP00000398655.4:p.Gly341Trp
ENST00000422843.7:c.1021G>T	ENSP00000398655.3:p.Gly341Trp
ENST00000519402.5:n.2606G>T
ENST00000519749.1:n.91G>T
ENST00000520173.1:n.139G>T
NM_005546.3:c.1021G>T , LRG_189t1:c.1021G>T	NP_005537.3:p.Gly341Trp
XM_017009443.1:c.646G>T	XP_016864932.1:p.Gly216Trp
NM_005546.4:c.1021G>T MANE Select	NP_005537.3:p.Gly341Trp