Canonical Allele Identifier: CA414583259

Gene: IGSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131285217C>A , CM000685.2:g.131285217C>A	GRCh38
NC_000023.10:g.130419191C>A , CM000685.1:g.130419191C>A	GRCh37
NC_000023.9:g.130246872C>A	NCBI36
NG_021190.2:g.119487G>T
NG_021190.3:g.298683G>T
NG_021190.4:g.298683G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361420.8:c.629G>T MANE Select	ENSP00000355010.3:p.Trp210Leu
ENST00000370903.8:c.629G>T	ENSP00000359940.3:p.Trp210Leu
ENST00000651556.1:c.629G>T	ENSP00000498789.1:p.Trp210Leu
ENST00000652189.1:c.629G>T	ENSP00000498607.1:p.Trp210Leu
ENST00000361420.7:c.629G>T	ENSP00000355010.3:p.Trp210Leu
ENST00000370900.5:c.629G>T	ENSP00000359937.1:p.Trp210Leu
ENST00000370901.4:c.629G>T	ENSP00000359938.4:p.Trp210Leu
ENST00000370903.7:c.629G>T	ENSP00000359940.3:p.Trp210Leu
ENST00000370904.6:c.602G>T	ENSP00000359941.1:p.Trp201Leu
ENST00000370910.5:c.602G>T	ENSP00000359947.1:p.Trp201Leu
NM_001170961.1:c.629G>T	NP_001164432.1:p.Trp210Leu
NM_001170962.1:c.602G>T	NP_001164433.1:p.Trp201Leu
NM_001170963.1:c.629G>T	NP_001164434.1:p.Trp210Leu
NM_001555.4:c.629G>T	NP_001546.2:p.Trp210Leu
NM_205833.3:c.629G>T	NP_991402.1:p.Trp210Leu
XM_011531330.1:c.629G>T	XP_011529632.1:p.Trp210Leu
XM_011531331.1:c.629G>T	XP_011529633.1:p.Trp210Leu
XM_011531332.1:c.629G>T	XP_011529634.1:p.Trp210Leu
XM_011531333.1:c.629G>T	XP_011529635.1:p.Trp210Leu
XM_011531334.1:c.629G>T	XP_011529636.1:p.Trp210Leu
XM_011531333.2:c.629G>T	XP_011529635.1:p.Trp210Leu
XM_011531334.2:c.629G>T	XP_011529636.1:p.Trp210Leu
NM_001555.5:c.629G>T MANE Select	NP_001546.2:p.Trp210Leu
NM_001170962.2:c.602G>T	NP_001164433.1:p.Trp201Leu
NM_205833.4:c.629G>T	NP_991402.1:p.Trp210Leu
NM_001170961.2:c.629G>T	NP_001164432.1:p.Trp210Leu
NM_001170963.2:c.629G>T	NP_001164434.1:p.Trp210Leu