Canonical Allele Identifier: CA414563011

Gene: IGSF1

Linked Data

• MyVariant Identifiers: chrX:g.130411835A>T (hg19) ; chrX:g.131277861A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131277861A>T , CM000685.2:g.131277861A>T	GRCh38
NC_000023.10:g.130411835A>T , CM000685.1:g.130411835A>T	GRCh37
NC_000023.9:g.130239516A>T	NCBI36
NG_021190.2:g.126843T>A
NG_021190.3:g.306039T>A
NG_021190.4:g.306039T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361420.8:c.2315T>A MANE Select	ENSP00000355010.3:p.Ile772Lys
ENST00000370903.8:c.2330T>A	ENSP00000359940.3:p.Ile777Lys
ENST00000651402.1:c.10-2984T>A
ENST00000651526.1:n.717T>A
ENST00000651556.1:c.2315T>A	ENSP00000498789.1:p.Ile772Lys
ENST00000652189.1:c.2315T>A	ENSP00000498607.1:p.Ile772Lys
ENST00000361420.7:c.2315T>A	ENSP00000355010.3:p.Ile772Lys
ENST00000370903.7:c.2330T>A	ENSP00000359940.3:p.Ile777Lys
ENST00000370904.6:c.2288T>A	ENSP00000359941.1:p.Ile763Lys
ENST00000370910.5:c.2288T>A	ENSP00000359947.1:p.Ile763Lys
NM_001170961.1:c.2330T>A	NP_001164432.1:p.Ile777Lys
NM_001170962.1:c.2288T>A	NP_001164433.1:p.Ile763Lys
NM_001555.4:c.2315T>A	NP_001546.2:p.Ile772Lys
XM_011531330.1:c.2330T>A	XP_011529632.1:p.Ile777Lys
XM_011531331.1:c.2330T>A	XP_011529633.1:p.Ile777Lys
XM_011531332.1:c.2330T>A	XP_011529634.1:p.Ile777Lys
XM_011531333.1:c.2330T>A	XP_011529635.1:p.Ile777Lys
XM_011531334.1:c.2330T>A	XP_011529636.1:p.Ile777Lys
XM_011531335.1:c.557T>A	XP_011529637.1:p.Ile186Lys
XM_011531333.2:c.2330T>A	XP_011529635.1:p.Ile777Lys
XM_011531334.2:c.2330T>A	XP_011529636.1:p.Ile777Lys
NM_001555.5:c.2315T>A MANE Select	NP_001546.2:p.Ile772Lys
NM_001170962.2:c.2288T>A	NP_001164433.1:p.Ile763Lys
NM_001170961.2:c.2330T>A	NP_001164432.1:p.Ile777Lys