Canonical Allele Identifier: CA8758972
Community Standard Title: NM_024844.5(NUP85):c.1740C>T (p.Asp580=)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75234761C>T , CM000679.2:g.75234761C>T GRCh38
NC_000017.10:g.73230856C>T , CM000679.1:g.73230856C>T GRCh37
NC_000017.9:g.70742451C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_024844.5:c.1740C>T (NUP85) MANE Select NP_079120.1:p.Asp580=
ENST00000245544.9:c.1740C>T (NUP85) MANE Select ENSP00000245544.4:p.Asp580=
NM_001303276.1:c.1602C>T (NUP85) NP_001290205.1:p.Asp534=
NM_001303276.2:c.1602C>T (NUP85) NP_001290205.1:p.Asp534=
NM_001330472.1:c.1605C>T (NUP85) NP_001317401.1:p.Asp535=
NM_001330472.2:c.1605C>T (NUP85) NP_001317401.1:p.Asp535=
NM_024844.4:c.1740C>T (NUP85) NP_079120.1:p.Asp580=
ENST00000245544.8:c.1740C>T (NUP85) ENSP00000245544.4:p.Asp580=
ENST00000540768.5:c.549C>T (NUP85) ENSP00000445855.1:p.Asp183=
ENST00000578294.1:n.364C>T (NUP85)
ENST00000578987.1:c.95C>T (NUP85)
ENST00000579298.5:c.1605C>T (NUP85) ENSP00000462749.1:p.Asp535=
ENST00000579324.5:c.1404C>T (NUP85) ENSP00000463382.1:p.Asp468=
ENST00000579838.1:c.58C>T (NUP85)
ENST00000579900.5:c.159C>T (NUP85) ENSP00000463437.1:p.Asp53=
ENST00000581104.5:c.*1108C>T (NUP85) ENSP00000461919.1:n.*1108C>T
ENST00000583070.5:c.827C>T (NUP85)
ENST00000584155.1:c.9C>T (NUP85) ENSP00000464433.1:p.Asp3=
XM_005257692.2:c.789C>T (NUP85) XP_005257749.1:p.Asp263=
XM_006722094.1:c.1605C>T (NUP85) XP_006722157.1:p.Asp535=
XM_011524563.1:c.2061+3891G>A (GGA3) XP_011522865.1:n.2061+3891G>A
XM_011524563.3:c.2061+3891G>A (GGA3) XP_011522865.1:n.2061+3891G>A
XM_011524564.1:c.1962+3891G>A (GGA3) XP_011522866.1:n.1962+3891G>A
XM_011524565.1:c.1845+3891G>A (GGA3) XP_011522867.1:n.1845+3891G>A
XM_011524566.1:c.1845+3891G>A (GGA3) XP_011522868.1:n.1845+3891G>A
XM_011524567.1:c.1845+3891G>A (GGA3) XP_011522869.1:n.1845+3891G>A
XM_011524568.1:c.1695+3891G>A (GGA3) XP_011522870.1:n.1695+3891G>A
XM_011524569.1:c.1464+3891G>A (GGA3) XP_011522871.1:n.1464+3891G>A
XM_011524570.1:c.1464+3891G>A (GGA3) XP_011522872.1:n.1464+3891G>A
XM_011525267.1:c.1236C>T (NUP85) XP_011523569.1:p.Asp412=
XM_017025108.2:c.1548C>T (NUP85) XP_016880597.1:p.Asp516=
XM_017025109.1:c.1467C>T (NUP85) XP_016880598.1:p.Asp489=
XM_017025110.1:c.1236C>T (NUP85) XP_016880599.1:p.Asp412=
XM_024450951.1:c.789C>T (NUP85) XP_024306719.1:p.Asp263=
XR_001752627.2:n.2152C>T (NUP85)
XR_001752628.2:n.1933C>T (NUP85)
XR_001752629.2:n.2055C>T (NUP85)
XR_002958071.1:n.1664C>T (NUP85)
XR_002958072.1:n.3112C>T (NUP85)
XR_934552.1:n.1812C>T (NUP85)
XR_934552.2:n.1799C>T (NUP85)