Canonical Allele Identifier: CA5359394

Gene: MAN1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137107555C>T , CM000671.2:g.137107555C>T	GRCh38
NC_000009.11:g.140002007C>T , CM000671.1:g.140002007C>T	GRCh37
NC_000009.10:g.139121828C>T	NCBI36
NG_031978.1:g.25629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371587.9:c.*1466C>T	ENSP00000483132.2:n.*1466C>T
ENST00000475449.7:c.1603C>T	ENSP00000448658.2:p.Arg535Trp
ENST00000535028.6:n.4052C>T
ENST00000535144.6:c.1789C>T	ENSP00000441398.3:p.Arg597Trp
ENST00000536268.2:n.2461C>T
ENST00000536349.6:n.3923C>T
ENST00000544448.6:c.*111C>T	ENSP00000444966.2:n.*111C>T
ENST00000545539.6:c.*1691C>T	ENSP00000440314.2:n.*1691C>T
ENST00000550113.2:n.340C>T
ENST00000682117.1:c.1789C>T	ENSP00000507328.1:p.Arg597Trp
ENST00000682212.1:c.1785C>T	ENSP00000508217.1:p.Cys595=
ENST00000682425.1:n.2039C>T
ENST00000682502.1:n.1771C>T
ENST00000682881.1:c.1789C>T	ENSP00000506762.1:p.Arg597Trp
ENST00000682964.1:n.1510C>T
ENST00000683135.1:c.*111C>T	ENSP00000507130.1:n.*111C>T
ENST00000683324.1:c.1786C>T	ENSP00000507373.1:p.Arg596Trp
ENST00000683355.1:c.1789C>T	ENSP00000508045.1:p.Arg597Trp
ENST00000683475.1:c.*562C>T	ENSP00000507749.1:n.*562C>T
ENST00000683529.1:n.998C>T
ENST00000683979.1:c.*5735C>T	ENSP00000507362.1:n.*5735C>T
ENST00000683987.1:c.1778C>T	ENSP00000507715.1:p.Ala593Val
ENST00000684138.1:c.*1491C>T	ENSP00000506755.1:n.*1491C>T
ENST00000684144.1:c.1783C>T	ENSP00000508213.1:p.Arg595Trp
ENST00000684229.1:n.1915C>T
ENST00000684272.1:c.*1694C>T	ENSP00000506776.1:n.*1694C>T
ENST00000684297.1:c.*670C>T	ENSP00000507160.1:n.*670C>T
ENST00000684336.1:n.4214C>T
ENST00000684366.1:c.*272C>T	ENSP00000507668.1:n.*272C>T
ENST00000684645.1:n.6261C>T
ENST00000684759.1:c.1782C>T	ENSP00000507818.1:p.Cys594=
ENST00000371589.9:c.1789C>T MANE Select	ENSP00000360645.4:p.Arg597Trp
ENST00000371589.8:c.1789C>T	ENSP00000360645.4:p.Arg597Trp
ENST00000474902.5:n.1435C>T
ENST00000475449.6:c.209C>T
ENST00000480100.3:n.2582C>T
ENST00000535028.5:n.2985C>T
ENST00000535144.5:c.1681C>T	ENSP00000441398.2:p.Arg561Trp
ENST00000536268.1:n.303C>T
ENST00000536349.5:n.4147C>T
ENST00000540391.5:n.3039C>T
ENST00000544448.5:c.*111C>T	ENSP00000444966.2:n.*111C>T
ENST00000550113.1:c.101C>T
NM_016219.4:c.1789C>T	NP_057303.2:p.Arg597Trp
NR_045720.1:n.1837C>T
NR_045721.1:n.1993C>T
XM_006716945.2:c.1789C>T	XP_006717008.1:p.Arg597Trp
XM_006716945.4:c.1789C>T	XP_006717008.1:p.Arg597Trp
XM_017014239.1:c.1492C>T	XP_016869728.1:p.Arg498Trp
XM_024447403.1:c.1872C>T	XP_024303171.1:p.Cys624=
XR_001746176.1:n.1954C>T
NM_016219.5:c.1789C>T MANE Select	NP_057303.2:p.Arg597Trp
NR_045720.2:n.1779C>T
NR_045721.2:n.1935C>T