Canonical Allele Identifier: CA414562997

Gene: IGSF1

Linked Data

• MyVariant Identifiers: chrX:g.130411833T>C (hg19) ; chrX:g.131277859T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131277859T>C , CM000685.2:g.131277859T>C	GRCh38
NC_000023.10:g.130411833T>C , CM000685.1:g.130411833T>C	GRCh37
NC_000023.9:g.130239514T>C	NCBI36
NG_021190.2:g.126845A>G
NG_021190.3:g.306041A>G
NG_021190.4:g.306041A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361420.8:c.2317A>G MANE Select	ENSP00000355010.3:p.Lys773Glu
ENST00000370903.8:c.2332A>G	ENSP00000359940.3:p.Lys778Glu
ENST00000651402.1:c.10-2982A>G
ENST00000651526.1:n.719A>G
ENST00000651556.1:c.2317A>G	ENSP00000498789.1:p.Lys773Glu
ENST00000652189.1:c.2317A>G	ENSP00000498607.1:p.Lys773Glu
ENST00000361420.7:c.2317A>G	ENSP00000355010.3:p.Lys773Glu
ENST00000370903.7:c.2332A>G	ENSP00000359940.3:p.Lys778Glu
ENST00000370904.6:c.2290A>G	ENSP00000359941.1:p.Lys764Glu
ENST00000370910.5:c.2290A>G	ENSP00000359947.1:p.Lys764Glu
NM_001170961.1:c.2332A>G	NP_001164432.1:p.Lys778Glu
NM_001170962.1:c.2290A>G	NP_001164433.1:p.Lys764Glu
NM_001555.4:c.2317A>G	NP_001546.2:p.Lys773Glu
XM_011531330.1:c.2332A>G	XP_011529632.1:p.Lys778Glu
XM_011531331.1:c.2332A>G	XP_011529633.1:p.Lys778Glu
XM_011531332.1:c.2332A>G	XP_011529634.1:p.Lys778Glu
XM_011531333.1:c.2332A>G	XP_011529635.1:p.Lys778Glu
XM_011531334.1:c.2332A>G	XP_011529636.1:p.Lys778Glu
XM_011531335.1:c.559A>G	XP_011529637.1:p.Lys187Glu
XM_011531333.2:c.2332A>G	XP_011529635.1:p.Lys778Glu
XM_011531334.2:c.2332A>G	XP_011529636.1:p.Lys778Glu
NM_001555.5:c.2317A>G MANE Select	NP_001546.2:p.Lys773Glu
NM_001170962.2:c.2290A>G	NP_001164433.1:p.Lys764Glu
NM_001170961.2:c.2332A>G	NP_001164432.1:p.Lys778Glu