Canonical Allele Identifier: CA5359552
Gene: MAN1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137108556G>A , CM000671.2:g.137108556G>A GRCh38
NC_000009.11:g.140003008G>A , CM000671.1:g.140003008G>A GRCh37
NC_000009.10:g.139122829G>A NCBI36
NG_031978.1:g.26630G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371587.9:c.*1742G>A ENSP00000483132.2:n.*1742G>A
ENST00000475449.7:c.1879G>A ENSP00000448658.2:p.Glu627Lys
ENST00000535028.6:n.4328G>A
ENST00000535144.6:c.*594G>A ENSP00000441398.3:n.*594G>A
ENST00000536268.2:n.3462G>A
ENST00000536349.6:n.4199G>A
ENST00000544448.6:c.*348G>A ENSP00000444966.2:n.*348G>A
ENST00000545539.6:c.*1967G>A ENSP00000440314.2:n.*1967G>A
ENST00000550113.2:n.616G>A
ENST00000682117.1:c.2026G>A ENSP00000507328.1:p.Glu676Lys
ENST00000682212.1:c.2061G>A ENSP00000508217.1:p.Pro687=
ENST00000682425.1:n.2315G>A
ENST00000682502.1:n.2772G>A
ENST00000682881.1:c.1922G>A ENSP00000506762.1:p.Arg641Gln
ENST00000682964.1:n.2511G>A
ENST00000683135.1:c.*387G>A ENSP00000507130.1:n.*387G>A
ENST00000683324.1:c.2062G>A ENSP00000507373.1:p.Glu688Lys
ENST00000683355.1:c.*279G>A ENSP00000508045.1:n.*279G>A
ENST00000683475.1:c.*838G>A ENSP00000507749.1:n.*838G>A
ENST00000683529.1:n.1274G>A
ENST00000683979.1:c.*6011G>A ENSP00000507362.1:n.*6011G>A
ENST00000683987.1:c.*107G>A ENSP00000507715.1:n.*107G>A
ENST00000684138.1:c.*1767G>A ENSP00000506755.1:n.*1767G>A
ENST00000684144.1:c.2059G>A ENSP00000508213.1:p.Glu687Lys
ENST00000684229.1:n.2191G>A
ENST00000684272.1:c.*1970G>A ENSP00000506776.1:n.*1970G>A
ENST00000684297.1:c.*946G>A ENSP00000507160.1:n.*946G>A
ENST00000684336.1:n.5215G>A
ENST00000684366.1:c.*548G>A ENSP00000507668.1:n.*548G>A
ENST00000684645.1:n.6537G>A
ENST00000684759.1:c.2058G>A ENSP00000507818.1:p.Pro686=
ENST00000371589.9:c.2065G>A MANE Select ENSP00000360645.4:p.Glu689Lys
ENST00000371589.8:c.2065G>A ENSP00000360645.4:p.Glu689Lys
ENST00000474902.5:n.1711G>A
ENST00000475449.6:c.342G>A
ENST00000480100.3:n.2858G>A
ENST00000535028.5:n.3261G>A
ENST00000536349.5:n.4423G>A
ENST00000540391.5:n.3315G>A
ENST00000544448.5:c.*387G>A ENSP00000444966.2:n.*387G>A
ENST00000550113.1:c.338G>A
NM_016219.4:c.2065G>A NP_057303.2:p.Glu689Lys
NR_045720.1:n.2113G>A
NR_045721.1:n.2269G>A
XM_006716945.4:c.*594G>A XP_006717008.1:n.*594G>A
XM_017014239.1:c.*594G>A XP_016869728.1:n.*594G>A
XM_024447403.1:c.2148G>A XP_024303171.1:p.Pro716=
XR_001746176.1:n.2230G>A
NM_016219.5:c.2065G>A MANE Select NP_057303.2:p.Glu689Lys
NR_045720.2:n.2055G>A
NR_045721.2:n.2211G>A