Canonical Allele Identifier: CA414563030

Gene: IGSF1

Linked Data

• MyVariant Identifiers: chrX:g.130411838A>G (hg19) ; chrX:g.131277864A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131277864A>G , CM000685.2:g.131277864A>G	GRCh38
NC_000023.10:g.130411838A>G , CM000685.1:g.130411838A>G	GRCh37
NC_000023.9:g.130239519A>G	NCBI36
NG_021190.2:g.126840T>C
NG_021190.3:g.306036T>C
NG_021190.4:g.306036T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361420.8:c.2312T>C MANE Select	ENSP00000355010.3:p.Val771Ala
ENST00000370903.8:c.2327T>C	ENSP00000359940.3:p.Val776Ala
ENST00000651402.1:c.10-2987T>C
ENST00000651526.1:n.714T>C
ENST00000651556.1:c.2312T>C	ENSP00000498789.1:p.Val771Ala
ENST00000652189.1:c.2312T>C	ENSP00000498607.1:p.Val771Ala
ENST00000361420.7:c.2312T>C	ENSP00000355010.3:p.Val771Ala
ENST00000370903.7:c.2327T>C	ENSP00000359940.3:p.Val776Ala
ENST00000370904.6:c.2285T>C	ENSP00000359941.1:p.Val762Ala
ENST00000370910.5:c.2285T>C	ENSP00000359947.1:p.Val762Ala
NM_001170961.1:c.2327T>C	NP_001164432.1:p.Val776Ala
NM_001170962.1:c.2285T>C	NP_001164433.1:p.Val762Ala
NM_001555.4:c.2312T>C	NP_001546.2:p.Val771Ala
XM_011531330.1:c.2327T>C	XP_011529632.1:p.Val776Ala
XM_011531331.1:c.2327T>C	XP_011529633.1:p.Val776Ala
XM_011531332.1:c.2327T>C	XP_011529634.1:p.Val776Ala
XM_011531333.1:c.2327T>C	XP_011529635.1:p.Val776Ala
XM_011531334.1:c.2327T>C	XP_011529636.1:p.Val776Ala
XM_011531335.1:c.554T>C	XP_011529637.1:p.Val185Ala
XM_011531333.2:c.2327T>C	XP_011529635.1:p.Val776Ala
XM_011531334.2:c.2327T>C	XP_011529636.1:p.Val776Ala
NM_001555.5:c.2312T>C MANE Select	NP_001546.2:p.Val771Ala
NM_001170962.2:c.2285T>C	NP_001164433.1:p.Val762Ala
NM_001170961.2:c.2327T>C	NP_001164432.1:p.Val776Ala