Canonical Allele Identifier: CA414556934

Gene: IGSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131274800G>A , CM000685.2:g.131274800G>A	GRCh38
NC_000023.10:g.130408774G>A , CM000685.1:g.130408774G>A	GRCh37
NC_000023.9:g.130236455G>A	NCBI36
NG_021190.2:g.129904C>T
NG_021190.3:g.309100C>T
NG_021190.4:g.309100C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361420.8:c.3550C>T MANE Select	ENSP00000355010.3:p.Arg1184Ter
ENST00000370903.8:c.3565C>T	ENSP00000359940.3:p.Arg1189Ter
ENST00000650730.1:c.151-34C>T
ENST00000650945.1:c.537C>T
ENST00000651402.1:c.87C>T
ENST00000651526.1:n.1952C>T
ENST00000651556.1:c.3550C>T	ENSP00000498789.1:p.Arg1184Ter
ENST00000652189.1:c.3262C>T	ENSP00000498607.1:p.Arg1088Ter
ENST00000361420.7:c.3550C>T	ENSP00000355010.3:p.Arg1184Ter
ENST00000370903.7:c.3565C>T	ENSP00000359940.3:p.Arg1189Ter
ENST00000370904.6:c.3523C>T	ENSP00000359941.1:p.Arg1175Ter
ENST00000370910.5:c.3523C>T	ENSP00000359947.1:p.Arg1175Ter
NM_001170961.1:c.3565C>T	NP_001164432.1:p.Arg1189Ter
NM_001170962.1:c.3523C>T	NP_001164433.1:p.Arg1175Ter
NM_001555.4:c.3550C>T	NP_001546.2:p.Arg1184Ter
XM_011531330.1:c.3565C>T	XP_011529632.1:p.Arg1189Ter
XM_011531331.1:c.3565C>T	XP_011529633.1:p.Arg1189Ter
XM_011531332.1:c.3488-34C>T	XP_011529634.1:n.3488-34C>T
XM_011531333.1:c.3316C>T	XP_011529635.1:p.Arg1106Ter
XM_011531334.1:c.2989C>T	XP_011529636.1:p.Arg997Ter
XM_011531335.1:c.1792C>T	XP_011529637.1:p.Arg598Ter
XM_011531333.2:c.3316C>T	XP_011529635.1:p.Arg1106Ter
XM_011531334.2:c.2989C>T	XP_011529636.1:p.Arg997Ter
NM_001555.5:c.3550C>T MANE Select	NP_001546.2:p.Arg1184Ter
NM_001170962.2:c.3523C>T	NP_001164433.1:p.Arg1175Ter
NM_001170961.2:c.3565C>T	NP_001164432.1:p.Arg1189Ter