Canonical Allele Identifier: CA410151442

Gene: ITSN1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33875496A>G , CM000683.2:g.33875496A>G	GRCh38
NC_000021.8:g.35247800A>G , CM000683.1:g.35247800A>G	GRCh37
NC_000021.7:g.34169670A>G	NCBI36
NG_029504.1:g.238017A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003024.3:c.4316A>G MANE Select	NP_003015.2:p.His1439Arg
ENST00000381318.8:c.4316A>G MANE Select	ENSP00000370719.3:p.His1439Arg
NM_001331010.1:c.4301A>G	NP_001317939.1:p.His1434Arg
NM_001331010.2:c.4301A>G	NP_001317939.1:p.His1434Arg
NM_003024.2:c.4316A>G	NP_003015.2:p.His1439Arg
ENST00000381284.7:c.380-6747A>G
ENST00000381285.8:c.*1350A>G	ENSP00000370685.5:n.*1350A>G
ENST00000381318.7:c.4316A>G	ENSP00000370719.3:p.His1439Arg
ENST00000399367.7:c.4301A>G	ENSP00000382301.3:p.His1434Arg
ENST00000415023.1:c.137A>G	ENSP00000409800.1:p.His46Arg
ENST00000420666.1:c.139A>G
ENST00000429238.2:c.441+31845T>C	ENSP00000394107.2:n.441+31845T>C
XM_005261026.1:c.4301A>G	XP_005261083.1:p.His1434Arg
XM_017028428.1:c.4316A>G	XP_016883917.1:p.His1439Arg
XM_017028429.2:c.4205A>G	XP_016883918.1:p.His1402Arg
XM_017028430.2:c.4190A>G	XP_016883919.1:p.His1397Arg
XM_017028431.2:c.4174-6747A>G	XP_016883920.1:n.4174-6747A>G
XM_017028432.2:c.4159-6747A>G	XP_016883921.1:n.4159-6747A>G
XM_017028433.2:c.4103A>G	XP_016883922.1:p.His1368Arg
XM_017028434.2:c.4088A>G	XP_016883923.1:p.His1363Arg
XM_017028435.2:c.3992A>G	XP_016883924.1:p.His1331Arg
XM_017028436.2:c.3977A>G	XP_016883925.1:p.His1326Arg
XM_017028437.1:c.2708A>G	XP_016883926.1:p.His903Arg
XR_001754890.2:n.4427A>G