Canonical Allele Identifier: CA10518023

Gene: IGSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131281844T>C , CM000685.2:g.131281844T>C	GRCh38
NC_000023.10:g.130415818T>C , CM000685.1:g.130415818T>C	GRCh37
NC_000023.9:g.130243499T>C	NCBI36
NG_021190.2:g.122860A>G
NG_021190.3:g.302056A>G
NG_021190.4:g.302056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361420.8:c.1347A>G MANE Select	ENSP00000355010.3:p.Glu449=
ENST00000370903.8:c.1347A>G	ENSP00000359940.3:p.Glu449=
ENST00000651402.1:c.9+1136A>G
ENST00000651556.1:c.1347A>G	ENSP00000498789.1:p.Glu449=
ENST00000652189.1:c.1347A>G	ENSP00000498607.1:p.Glu449=
ENST00000361420.7:c.1347A>G	ENSP00000355010.3:p.Glu449=
ENST00000370903.7:c.1347A>G	ENSP00000359940.3:p.Glu449=
ENST00000370904.6:c.1320A>G	ENSP00000359941.1:p.Glu440=
ENST00000370910.5:c.1320A>G	ENSP00000359947.1:p.Glu440=
NM_001170961.1:c.1347A>G	NP_001164432.1:p.Glu449=
NM_001170962.1:c.1320A>G	NP_001164433.1:p.Glu440=
NM_001555.4:c.1347A>G	NP_001546.2:p.Glu449=
XM_011531330.1:c.1347A>G	XP_011529632.1:p.Glu449=
XM_011531331.1:c.1347A>G	XP_011529633.1:p.Glu449=
XM_011531332.1:c.1347A>G	XP_011529634.1:p.Glu449=
XM_011531333.1:c.1347A>G	XP_011529635.1:p.Glu449=
XM_011531334.1:c.1347A>G	XP_011529636.1:p.Glu449=
XM_011531333.2:c.1347A>G	XP_011529635.1:p.Glu449=
XM_011531334.2:c.1347A>G	XP_011529636.1:p.Glu449=
NM_001555.5:c.1347A>G MANE Select	NP_001546.2:p.Glu449=
NM_001170962.2:c.1320A>G	NP_001164433.1:p.Glu440=
NM_001170961.2:c.1347A>G	NP_001164432.1:p.Glu449=