Canonical Allele Identifier: CA320193310

Gene: ITSN1

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33775008T>C , CM000683.2:g.33775008T>C	GRCh38
NC_000021.8:g.35147312T>C , CM000683.1:g.35147312T>C	GRCh37
NC_000021.7:g.34069182T>C	NCBI36
NG_029504.1:g.137529T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003024.3:c.1496T>C MANE Select	NP_003015.2:p.Ile499Thr
ENST00000381318.8:c.1496T>C MANE Select	ENSP00000370719.3:p.Ile499Thr
NM_001001132.1:c.1496T>C	NP_001001132.1:p.Ile499Thr
NM_001001132.2:c.1496T>C	NP_001001132.1:p.Ile499Thr
NM_001331008.1:c.1496T>C	NP_001317937.1:p.Ile499Thr
NM_001331008.2:c.1496T>C	NP_001317937.1:p.Ile499Thr
NM_001331009.1:c.1496T>C	NP_001317938.1:p.Ile499Thr
NM_001331009.2:c.1496T>C	NP_001317938.1:p.Ile499Thr
NM_001331010.1:c.1496T>C	NP_001317939.1:p.Ile499Thr
NM_001331010.2:c.1496T>C	NP_001317939.1:p.Ile499Thr
NM_001331011.1:c.1496T>C	NP_001317940.1:p.Ile499Thr
NM_001331011.2:c.1496T>C	NP_001317940.1:p.Ile499Thr
NM_001331012.1:c.1385T>C	NP_001317941.1:p.Ile462Thr
NM_001331012.2:c.1385T>C	NP_001317941.1:p.Ile462Thr
NM_003024.2:c.1496T>C	NP_003015.2:p.Ile499Thr
ENST00000379960.9:c.*456T>C	ENSP00000369294.6:n.*456T>C
ENST00000381285.8:c.1385T>C	ENSP00000370685.5:p.Ile462Thr
ENST00000381291.8:c.1496T>C	ENSP00000370691.4:p.Ile499Thr
ENST00000381318.7:c.1496T>C	ENSP00000370719.3:p.Ile499Thr
ENST00000399338.8:c.1496T>C	ENSP00000382275.4:p.Ile499Thr
ENST00000399349.5:c.1496T>C	ENSP00000382286.1:p.Ile499Thr
ENST00000399352.5:c.1496T>C	ENSP00000382289.1:p.Ile499Thr
ENST00000399353.5:c.1385T>C	ENSP00000382290.1:p.Ile462Thr
ENST00000399355.6:c.1496T>C	ENSP00000382292.2:p.Ile499Thr
ENST00000399367.7:c.1496T>C	ENSP00000382301.3:p.Ile499Thr
ENST00000429238.2:c.441+132333A>G	ENSP00000394107.2:n.441+132333A>G
ENST00000474132.1:n.557T>C
XM_005261026.1:c.1496T>C	XP_005261083.1:p.Ile499Thr
XM_005261027.1:c.1496T>C	XP_005261084.1:p.Ile499Thr
XM_005261031.1:c.1496T>C	XP_005261088.1:p.Ile499Thr
XM_011529689.1:c.1496T>C	XP_011527991.1:p.Ile499Thr
XM_011529690.1:c.1496T>C	XP_011527992.1:p.Ile499Thr
XM_011529691.1:c.1385T>C	XP_011527993.1:p.Ile462Thr
XM_011529692.1:c.1385T>C	XP_011527994.1:p.Ile462Thr
XM_011529692.2:c.1385T>C	XP_011527994.1:p.Ile462Thr
XM_011529693.1:c.1496T>C	XP_011527995.1:p.Ile499Thr
XM_011529693.3:c.1496T>C	XP_011527995.1:p.Ile499Thr
XM_017028428.1:c.1496T>C	XP_016883917.1:p.Ile499Thr
XM_017028429.2:c.1385T>C	XP_016883918.1:p.Ile462Thr
XM_017028430.2:c.1385T>C	XP_016883919.1:p.Ile462Thr
XM_017028431.2:c.1496T>C	XP_016883920.1:p.Ile499Thr
XM_017028432.2:c.1496T>C	XP_016883921.1:p.Ile499Thr
XM_017028433.2:c.1496T>C	XP_016883922.1:p.Ile499Thr
XM_017028434.2:c.1496T>C	XP_016883923.1:p.Ile499Thr
XM_017028435.2:c.1385T>C	XP_016883924.1:p.Ile462Thr
XM_017028436.2:c.1385T>C	XP_016883925.1:p.Ile462Thr
XM_017028437.1:c.-113T>C	XP_016883926.1:n.-113T>C
XM_017028438.2:c.1385T>C	XP_016883927.1:p.Ile462Thr
XM_017028440.2:c.1385T>C	XP_016883929.1:p.Ile462Thr
XM_017028441.2:c.1496T>C	XP_016883930.1:p.Ile499Thr
XR_001754889.2:n.1789T>C
XR_001754890.2:n.1789T>C
XR_244289.1:n.1842T>C
XR_244289.2:n.1789T>C