Canonical Allele Identifier: CA410192382

Gene: ITSN1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33888256G>A , CM000683.2:g.33888256G>A	GRCh38
NC_000021.8:g.35260560G>A , CM000683.1:g.35260560G>A	GRCh37
NC_000021.7:g.34182430G>A	NCBI36
NG_029504.1:g.250777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381318.8:c.5122G>A MANE Select	ENSP00000370719.3:p.Glu1708Lys
ENST00000381285.8:c.*2156G>A	ENSP00000370685.5:n.*2156G>A
ENST00000381318.7:c.5122G>A	ENSP00000370719.3:p.Glu1708Lys
ENST00000399367.7:c.5107G>A	ENSP00000382301.3:p.Glu1703Lys
ENST00000429238.2:c.441+19085C>T	ENSP00000394107.2:n.441+19085C>T
NM_003024.2:c.5122G>A	NP_003015.2:p.Glu1708Lys
XM_005261026.1:c.5107G>A	XP_005261083.1:p.Glu1703Lys
NM_001331010.1:c.5107G>A	NP_001317939.1:p.Glu1703Lys
XM_017028428.1:c.5122G>A	XP_016883917.1:p.Glu1708Lys
XM_017028429.2:c.5011G>A	XP_016883918.1:p.Glu1671Lys
XM_017028430.2:c.4996G>A	XP_016883919.1:p.Glu1666Lys
XM_017028431.2:c.4954G>A	XP_016883920.1:p.Glu1652Lys
XM_017028432.2:c.4939G>A	XP_016883921.1:p.Glu1647Lys
XM_017028433.2:c.4909G>A	XP_016883922.1:p.Glu1637Lys
XM_017028434.2:c.4894G>A	XP_016883923.1:p.Glu1632Lys
XM_017028435.2:c.4798G>A	XP_016883924.1:p.Glu1600Lys
XM_017028436.2:c.4783G>A	XP_016883925.1:p.Glu1595Lys
XM_017028437.1:c.3514G>A	XP_016883926.1:p.Glu1172Lys
XR_001754890.2:n.5233G>A
NM_003024.3:c.5122G>A MANE Select	NP_003015.2:p.Glu1708Lys
NM_001331010.2:c.5107G>A	NP_001317939.1:p.Glu1703Lys