Canonical Allele Identifier: CA335115691
Community Standard Title: NM_001555.5(IGSF1):c.379+95T>C
Gene: IGSF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.131285672A>G , CM000685.2:g.131285672A>G GRCh38
NC_000023.10:g.130419646A>G , CM000685.1:g.130419646A>G GRCh37
NC_000023.9:g.130247327A>G NCBI36
NG_021190.2:g.119032T>C
NG_021190.3:g.298228T>C
NG_021190.4:g.298228T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001555.5:c.379+95T>C MANE Select NP_001546.2:n.379+95T>C
ENST00000361420.8:c.379+95T>C MANE Select ENSP00000355010.3:n.379+95T>C
NM_001170961.1:c.379+95T>C NP_001164432.1:n.379+95T>C
NM_001170961.2:c.379+95T>C NP_001164432.1:n.379+95T>C
NM_001170962.1:c.352+95T>C NP_001164433.1:n.352+95T>C
NM_001170962.2:c.352+95T>C NP_001164433.1:n.352+95T>C
NM_001170963.1:c.379+95T>C NP_001164434.1:n.379+95T>C
NM_001170963.2:c.379+95T>C NP_001164434.1:n.379+95T>C
NM_001555.4:c.379+95T>C NP_001546.2:n.379+95T>C
NM_205833.3:c.379+95T>C NP_991402.1:n.379+95T>C
NM_205833.4:c.379+95T>C NP_991402.1:n.379+95T>C
ENST00000361420.7:c.379+95T>C ENSP00000355010.3:n.379+95T>C
ENST00000370900.5:c.379+95T>C ENSP00000359937.1:n.379+95T>C
ENST00000370901.4:c.379+95T>C ENSP00000359938.4:n.379+95T>C
ENST00000370903.7:c.379+95T>C ENSP00000359940.3:n.379+95T>C
ENST00000370903.8:c.379+95T>C ENSP00000359940.3:n.379+95T>C
ENST00000370904.6:c.352+95T>C ENSP00000359941.1:n.352+95T>C
ENST00000370910.5:c.352+95T>C ENSP00000359947.1:n.352+95T>C
ENST00000651556.1:c.379+95T>C ENSP00000498789.1:n.379+95T>C
ENST00000652189.1:c.379+95T>C ENSP00000498607.1:n.379+95T>C
XM_011531330.1:c.379+95T>C XP_011529632.1:n.379+95T>C
XM_011531331.1:c.379+95T>C XP_011529633.1:n.379+95T>C
XM_011531332.1:c.379+95T>C XP_011529634.1:n.379+95T>C
XM_011531333.1:c.379+95T>C XP_011529635.1:n.379+95T>C
XM_011531333.2:c.379+95T>C XP_011529635.1:n.379+95T>C
XM_011531334.1:c.379+95T>C XP_011529636.1:n.379+95T>C
XM_011531334.2:c.379+95T>C XP_011529636.1:n.379+95T>C