Canonical Allele Identifier: CA10517842

Gene: IGSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131278028C>T , CM000685.2:g.131278028C>T	GRCh38
NC_000023.10:g.130412002C>T , CM000685.1:g.130412002C>T	GRCh37
NC_000023.9:g.130239683C>T	NCBI36
NG_021190.2:g.126676G>A
NG_021190.3:g.305872G>A
NG_021190.4:g.305872G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001555.5:c.2148G>A MANE Select	NP_001546.2:p.Lys716=
ENST00000361420.8:c.2148G>A MANE Select	ENSP00000355010.3:p.Lys716=
NM_001170961.1:c.2163G>A	NP_001164432.1:p.Lys721=
NM_001170961.2:c.2163G>A	NP_001164432.1:p.Lys721=
NM_001170962.1:c.2121G>A	NP_001164433.1:p.Lys707=
NM_001170962.2:c.2121G>A	NP_001164433.1:p.Lys707=
NM_001555.4:c.2148G>A	NP_001546.2:p.Lys716=
ENST00000361420.7:c.2148G>A	ENSP00000355010.3:p.Lys716=
ENST00000370903.7:c.2163G>A	ENSP00000359940.3:p.Lys721=
ENST00000370903.8:c.2163G>A	ENSP00000359940.3:p.Lys721=
ENST00000370904.6:c.2121G>A	ENSP00000359941.1:p.Lys707=
ENST00000370910.5:c.2121G>A	ENSP00000359947.1:p.Lys707=
ENST00000651212.1:n.481G>A
ENST00000651402.1:c.10-3151G>A
ENST00000651526.1:n.550G>A
ENST00000651556.1:c.2148G>A	ENSP00000498789.1:p.Lys716=
ENST00000652189.1:c.2148G>A	ENSP00000498607.1:p.Lys716=
XM_011531330.1:c.2163G>A	XP_011529632.1:p.Lys721=
XM_011531331.1:c.2163G>A	XP_011529633.1:p.Lys721=
XM_011531332.1:c.2163G>A	XP_011529634.1:p.Lys721=
XM_011531333.1:c.2163G>A	XP_011529635.1:p.Lys721=
XM_011531333.2:c.2163G>A	XP_011529635.1:p.Lys721=
XM_011531334.1:c.2163G>A	XP_011529636.1:p.Lys721=
XM_011531334.2:c.2163G>A	XP_011529636.1:p.Lys721=
XM_011531335.1:c.390G>A	XP_011529637.1:p.Lys130=