Canonical Allele Identifier: CA10518249

Gene: IGSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.131286033G>A , CM000685.2:g.131286033G>A	GRCh38
NC_000023.10:g.130420007G>A , CM000685.1:g.130420007G>A	GRCh37
NC_000023.9:g.130247688G>A	NCBI36
NG_021190.2:g.118671C>T
NG_021190.3:g.297867C>T
NG_021190.4:g.297867C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001555.5:c.113C>T MANE Select	NP_001546.2:p.Pro38Leu
ENST00000361420.8:c.113C>T MANE Select	ENSP00000355010.3:p.Pro38Leu
NM_001170961.1:c.113C>T	NP_001164432.1:p.Pro38Leu
NM_001170961.2:c.113C>T	NP_001164432.1:p.Pro38Leu
NM_001170962.1:c.86C>T	NP_001164433.1:p.Pro29Leu
NM_001170962.2:c.86C>T	NP_001164433.1:p.Pro29Leu
NM_001170963.1:c.113C>T	NP_001164434.1:p.Pro38Leu
NM_001170963.2:c.113C>T	NP_001164434.1:p.Pro38Leu
NM_001555.4:c.113C>T	NP_001546.2:p.Pro38Leu
NM_205833.3:c.113C>T	NP_991402.1:p.Pro38Leu
NM_205833.4:c.113C>T	NP_991402.1:p.Pro38Leu
ENST00000361420.7:c.113C>T	ENSP00000355010.3:p.Pro38Leu
ENST00000370900.5:c.113C>T	ENSP00000359937.1:p.Pro38Leu
ENST00000370901.4:c.113C>T	ENSP00000359938.4:p.Pro38Leu
ENST00000370903.7:c.113C>T	ENSP00000359940.3:p.Pro38Leu
ENST00000370903.8:c.113C>T	ENSP00000359940.3:p.Pro38Leu
ENST00000370904.6:c.86C>T	ENSP00000359941.1:p.Pro29Leu
ENST00000370910.5:c.86C>T	ENSP00000359947.1:p.Pro29Leu
ENST00000651556.1:c.113C>T	ENSP00000498789.1:p.Pro38Leu
ENST00000652189.1:c.113C>T	ENSP00000498607.1:p.Pro38Leu
XM_011531330.1:c.113C>T	XP_011529632.1:p.Pro38Leu
XM_011531331.1:c.113C>T	XP_011529633.1:p.Pro38Leu
XM_011531332.1:c.113C>T	XP_011529634.1:p.Pro38Leu
XM_011531333.1:c.113C>T	XP_011529635.1:p.Pro38Leu
XM_011531333.2:c.113C>T	XP_011529635.1:p.Pro38Leu
XM_011531334.1:c.113C>T	XP_011529636.1:p.Pro38Leu
XM_011531334.2:c.113C>T	XP_011529636.1:p.Pro38Leu