Canonical Allele Identifier: CA414562969

Gene: IGSF1

Linked Data

• MyVariant Identifiers: chrX:g.130411829C>T (hg19) ; chrX:g.131277855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131277855C>T , CM000685.2:g.131277855C>T	GRCh38
NC_000023.10:g.130411829C>T , CM000685.1:g.130411829C>T	GRCh37
NC_000023.9:g.130239510C>T	NCBI36
NG_021190.2:g.126849G>A
NG_021190.3:g.306045G>A
NG_021190.4:g.306045G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361420.8:c.2320+1G>A MANE Select	ENSP00000355010.3:n.2320+1G>A
ENST00000370903.8:c.2335+1G>A	ENSP00000359940.3:n.2335+1G>A
ENST00000651402.1:c.10-2978G>A
ENST00000651526.1:n.722+1G>A
ENST00000651556.1:c.2320+1G>A	ENSP00000498789.1:n.2320+1G>A
ENST00000652189.1:c.2320+1G>A	ENSP00000498607.1:n.2320+1G>A
ENST00000361420.7:c.2320+1G>A	ENSP00000355010.3:n.2320+1G>A
ENST00000370903.7:c.2335+1G>A	ENSP00000359940.3:n.2335+1G>A
ENST00000370904.6:c.2293+1G>A	ENSP00000359941.1:n.2293+1G>A
ENST00000370910.5:c.2293+1G>A	ENSP00000359947.1:n.2293+1G>A
NM_001170961.1:c.2335+1G>A	NP_001164432.1:n.2335+1G>A
NM_001170962.1:c.2293+1G>A	NP_001164433.1:n.2293+1G>A
NM_001555.4:c.2320+1G>A	NP_001546.2:n.2320+1G>A
XM_011531330.1:c.2335+1G>A	XP_011529632.1:n.2335+1G>A
XM_011531331.1:c.2335+1G>A	XP_011529633.1:n.2335+1G>A
XM_011531332.1:c.2335+1G>A	XP_011529634.1:n.2335+1G>A
XM_011531333.1:c.2335+1G>A	XP_011529635.1:n.2335+1G>A
XM_011531334.1:c.2335+1G>A	XP_011529636.1:n.2335+1G>A
XM_011531335.1:c.562+1G>A	XP_011529637.1:n.562+1G>A
XM_011531333.2:c.2335+1G>A	XP_011529635.1:n.2335+1G>A
XM_011531334.2:c.2335+1G>A	XP_011529636.1:n.2335+1G>A
NM_001555.5:c.2320+1G>A MANE Select	NP_001546.2:n.2320+1G>A
NM_001170962.2:c.2293+1G>A	NP_001164433.1:n.2293+1G>A
NM_001170961.2:c.2335+1G>A	NP_001164432.1:n.2335+1G>A