Canonical Allele Identifier: CA206055
Gene: MAN1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137107594G>A , CM000671.2:g.137107594G>A GRCh38
NC_000009.11:g.140002046G>A , CM000671.1:g.140002046G>A GRCh37
NC_000009.10:g.139121867G>A NCBI36
NG_031978.1:g.25668G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371587.9:c.*1505G>A ENSP00000483132.2:n.*1505G>A
ENST00000475449.7:c.1642G>A ENSP00000448658.2:p.Val548Ile
ENST00000535028.6:n.4091G>A
ENST00000535144.6:c.1828G>A ENSP00000441398.3:p.Val610Ile
ENST00000536268.2:n.2500G>A
ENST00000536349.6:n.3962G>A
ENST00000544448.6:c.*150G>A ENSP00000444966.2:n.*150G>A
ENST00000545539.6:c.*1730G>A ENSP00000440314.2:n.*1730G>A
ENST00000550113.2:n.379G>A
ENST00000682117.1:c.1828G>A ENSP00000507328.1:p.Val610Ile
ENST00000682212.1:c.1824G>A ENSP00000508217.1:p.Ala608=
ENST00000682425.1:n.2078G>A
ENST00000682502.1:n.1810G>A
ENST00000682881.1:c.1828G>A ENSP00000506762.1:p.Val610Ile
ENST00000682964.1:n.1549G>A
ENST00000683135.1:c.*150G>A ENSP00000507130.1:n.*150G>A
ENST00000683324.1:c.1825G>A ENSP00000507373.1:p.Val609Ile
ENST00000683355.1:c.1828G>A ENSP00000508045.1:p.Val610Ile
ENST00000683475.1:c.*601G>A ENSP00000507749.1:n.*601G>A
ENST00000683529.1:n.1037G>A
ENST00000683979.1:c.*5774G>A ENSP00000507362.1:n.*5774G>A
ENST00000683987.1:c.1817G>A ENSP00000507715.1:p.Arg606His
ENST00000684138.1:c.*1530G>A ENSP00000506755.1:n.*1530G>A
ENST00000684144.1:c.1822G>A ENSP00000508213.1:p.Val608Ile
ENST00000684229.1:n.1954G>A
ENST00000684272.1:c.*1733G>A ENSP00000506776.1:n.*1733G>A
ENST00000684297.1:c.*709G>A ENSP00000507160.1:n.*709G>A
ENST00000684336.1:n.4253G>A
ENST00000684366.1:c.*311G>A ENSP00000507668.1:n.*311G>A
ENST00000684645.1:n.6300G>A
ENST00000684759.1:c.1821G>A ENSP00000507818.1:p.Ala607=
ENST00000371589.9:c.1828G>A MANE Select ENSP00000360645.4:p.Val610Ile
ENST00000371589.8:c.1828G>A ENSP00000360645.4:p.Val610Ile
ENST00000474902.5:n.1474G>A
ENST00000475449.6:c.248G>A
ENST00000480100.3:n.2621G>A
ENST00000535028.5:n.3024G>A
ENST00000535144.5:c.1720G>A ENSP00000441398.2:p.Val574Ile
ENST00000536268.1:n.342G>A
ENST00000536349.5:n.4186G>A
ENST00000540391.5:n.3078G>A
ENST00000544448.5:c.*150G>A ENSP00000444966.2:n.*150G>A
ENST00000550113.1:c.140G>A
NM_016219.4:c.1828G>A NP_057303.2:p.Val610Ile
NR_045720.1:n.1876G>A
NR_045721.1:n.2032G>A
XM_006716945.2:c.1828G>A XP_006717008.1:p.Val610Ile
XM_006716945.4:c.1828G>A XP_006717008.1:p.Val610Ile
XM_017014239.1:c.1531G>A XP_016869728.1:p.Val511Ile
XM_024447403.1:c.1911G>A XP_024303171.1:p.Ala637=
XR_001746176.1:n.1993G>A
NM_016219.5:c.1828G>A MANE Select NP_057303.2:p.Val610Ile
NR_045720.2:n.1818G>A
NR_045721.2:n.1974G>A