Canonical Allele Identifier: CA5359360

Gene: MAN1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137107436G>A , CM000671.2:g.137107436G>A	GRCh38
NC_000009.11:g.140001888G>A , CM000671.1:g.140001888G>A	GRCh37
NC_000009.10:g.139121709G>A	NCBI36
NG_031978.1:g.25510G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371587.9:c.*1430G>A	ENSP00000483132.2:n.*1430G>A
ENST00000475449.7:c.1567G>A	ENSP00000448658.2:p.Val523Met
ENST00000535028.6:n.3933G>A
ENST00000535144.6:c.1753G>A	ENSP00000441398.3:p.Val585Met
ENST00000536268.2:n.2425G>A
ENST00000536349.6:n.3887G>A
ENST00000542372.2:c.1669G>A	ENSP00000444189.2:p.Val557Met
ENST00000544448.6:c.*75G>A	ENSP00000444966.2:n.*75G>A
ENST00000545539.6:c.*1655G>A	ENSP00000440314.2:n.*1655G>A
ENST00000550113.2:n.304G>A
ENST00000682117.1:c.1753G>A	ENSP00000507328.1:p.Val585Met
ENST00000682212.1:c.1753G>A	ENSP00000508217.1:p.Val585Met
ENST00000682425.1:n.2003G>A
ENST00000682502.1:n.1735G>A
ENST00000682881.1:c.1753G>A	ENSP00000506762.1:p.Val585Met
ENST00000682964.1:n.1474G>A
ENST00000683135.1:c.*75G>A	ENSP00000507130.1:n.*75G>A
ENST00000683324.1:c.1750G>A	ENSP00000507373.1:p.Val584Met
ENST00000683355.1:c.1753G>A	ENSP00000508045.1:p.Val585Met
ENST00000683475.1:c.*526G>A	ENSP00000507749.1:n.*526G>A
ENST00000683529.1:n.966G>A
ENST00000683979.1:c.*5699G>A	ENSP00000507362.1:n.*5699G>A
ENST00000683987.1:c.1753G>A	ENSP00000507715.1:p.Val585Met
ENST00000684138.1:c.*1455G>A	ENSP00000506755.1:n.*1455G>A
ENST00000684144.1:c.1747G>A	ENSP00000508213.1:p.Val583Met
ENST00000684229.1:n.1796G>A
ENST00000684272.1:c.*1658G>A	ENSP00000506776.1:n.*1658G>A
ENST00000684297.1:c.*634G>A	ENSP00000507160.1:n.*634G>A
ENST00000684336.1:n.4095G>A
ENST00000684366.1:c.*236G>A	ENSP00000507668.1:n.*236G>A
ENST00000684645.1:n.6225G>A
ENST00000684759.1:c.1753G>A	ENSP00000507818.1:p.Val585Met
ENST00000371589.9:c.1753G>A MANE Select	ENSP00000360645.4:p.Val585Met
ENST00000371589.8:c.1753G>A	ENSP00000360645.4:p.Val585Met
ENST00000474902.5:n.1399G>A
ENST00000475449.6:c.173G>A
ENST00000480100.3:n.2546G>A
ENST00000535028.5:n.2949G>A
ENST00000535144.5:c.1645G>A	ENSP00000441398.2:p.Val549Met
ENST00000536268.1:n.267G>A
ENST00000536349.5:n.4111G>A
ENST00000540391.5:n.3003G>A
ENST00000544448.5:c.*75G>A	ENSP00000444966.2:n.*75G>A
ENST00000550113.1:c.65G>A
NM_016219.4:c.1753G>A	NP_057303.2:p.Val585Met
NR_045720.1:n.1801G>A
NR_045721.1:n.1957G>A
XM_006716945.2:c.1753G>A	XP_006717008.1:p.Val585Met
XM_006716945.4:c.1753G>A	XP_006717008.1:p.Val585Met
XM_017014239.1:c.1456G>A	XP_016869728.1:p.Val486Met
XM_024447403.1:c.1753G>A	XP_024303171.1:p.Val585Met
XR_001746176.1:n.1918G>A
NM_016219.5:c.1753G>A MANE Select	NP_057303.2:p.Val585Met
NR_045720.2:n.1743G>A
NR_045721.2:n.1899G>A