Canonical Allele Identifier: CA335110010
Community Standard Title: NM_001555.5(IGSF1):c.2608+116A>G
Gene: IGSF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.131276823T>C , CM000685.2:g.131276823T>C GRCh38
NC_000023.10:g.130410797T>C , CM000685.1:g.130410797T>C GRCh37
NC_000023.9:g.130238478T>C NCBI36
NG_021190.2:g.127881A>G
NG_021190.3:g.307077A>G
NG_021190.4:g.307077A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001555.5:c.2608+116A>G MANE Select NP_001546.2:n.2608+116A>G
ENST00000361420.8:c.2608+116A>G MANE Select ENSP00000355010.3:n.2608+116A>G
NM_001170961.1:c.2623+116A>G NP_001164432.1:n.2623+116A>G
NM_001170961.2:c.2623+116A>G NP_001164432.1:n.2623+116A>G
NM_001170962.1:c.2581+116A>G NP_001164433.1:n.2581+116A>G
NM_001170962.2:c.2581+116A>G NP_001164433.1:n.2581+116A>G
NM_001555.4:c.2608+116A>G NP_001546.2:n.2608+116A>G
ENST00000361420.7:c.2608+116A>G ENSP00000355010.3:n.2608+116A>G
ENST00000370903.7:c.2623+116A>G ENSP00000359940.3:n.2623+116A>G
ENST00000370903.8:c.2623+116A>G ENSP00000359940.3:n.2623+116A>G
ENST00000370904.6:c.2581+116A>G ENSP00000359941.1:n.2581+116A>G
ENST00000370910.5:c.2581+116A>G ENSP00000359947.1:n.2581+116A>G
ENST00000467244.1:n.579+116A>G
ENST00000651402.1:c.10-1946A>G
ENST00000651526.1:n.1010+116A>G
ENST00000651556.1:c.2608+116A>G ENSP00000498789.1:n.2608+116A>G
ENST00000652189.1:c.2608+116A>G ENSP00000498607.1:n.2608+116A>G
XM_011531330.1:c.2623+116A>G XP_011529632.1:n.2623+116A>G
XM_011531331.1:c.2623+116A>G XP_011529633.1:n.2623+116A>G
XM_011531332.1:c.2623+116A>G XP_011529634.1:n.2623+116A>G
XM_011531333.1:c.2623+116A>G XP_011529635.1:n.2623+116A>G
XM_011531333.2:c.2623+116A>G XP_011529635.1:n.2623+116A>G
XM_011531334.1:c.2623+116A>G XP_011529636.1:n.2623+116A>G
XM_011531334.2:c.2623+116A>G XP_011529636.1:n.2623+116A>G
XM_011531335.1:c.850+116A>G XP_011529637.1:n.850+116A>G