Canonical Allele Identifier: CA129196

Gene: MAN1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137101607G>A , CM000671.2:g.137101607G>A	GRCh38
NC_000009.11:g.139996059G>A , CM000671.1:g.139996059G>A	GRCh37
NC_000009.10:g.139115880G>A	NCBI36
NG_031978.1:g.19681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371587.9:c.*891G>A	ENSP00000483132.2:n.*891G>A
ENST00000475449.7:c.1003G>A	ENSP00000448658.2:p.Glu335Lys
ENST00000535144.6:c.1189G>A	ENSP00000441398.3:p.Glu397Lys
ENST00000542372.2:c.1105G>A	ENSP00000444189.2:p.Glu369Lys
ENST00000544448.6:c.1189G>A	ENSP00000444966.2:p.Glu397Lys
ENST00000545539.6:c.*1094G>A	ENSP00000440314.2:n.*1094G>A
ENST00000682117.1:c.1189G>A	ENSP00000507328.1:p.Glu397Lys
ENST00000682210.1:n.2336G>A
ENST00000682212.1:c.1189G>A	ENSP00000508217.1:p.Glu397Lys
ENST00000682425.1:n.1439G>A
ENST00000682881.1:c.1189G>A	ENSP00000506762.1:p.Glu397Lys
ENST00000682964.1:n.537G>A
ENST00000683135.1:c.1189G>A	ENSP00000507130.1:p.Glu397Lys
ENST00000683324.1:c.1186G>A	ENSP00000507373.1:p.Glu396Lys
ENST00000683355.1:c.1189G>A	ENSP00000508045.1:p.Glu397Lys
ENST00000683475.1:c.1189G>A	ENSP00000507749.1:p.Glu397Lys
ENST00000683979.1:c.*891G>A	ENSP00000507362.1:n.*891G>A
ENST00000683987.1:c.1189G>A	ENSP00000507715.1:p.Glu397Lys
ENST00000684138.1:c.*891G>A	ENSP00000506755.1:n.*891G>A
ENST00000684144.1:c.1186G>A	ENSP00000508213.1:p.Glu396Lys
ENST00000684229.1:n.1232G>A
ENST00000684272.1:c.*1094G>A	ENSP00000506776.1:n.*1094G>A
ENST00000684297.1:c.1189G>A	ENSP00000507160.1:p.Glu397Lys
ENST00000684366.1:c.1189G>A	ENSP00000507668.1:p.Glu397Lys
ENST00000684645.1:n.1209G>A
ENST00000684759.1:c.1189G>A	ENSP00000507818.1:p.Glu397Lys
ENST00000371589.9:c.1189G>A MANE Select	ENSP00000360645.4:p.Glu397Lys
ENST00000371587.8:c.1239G>A	ENSP00000483132.1:n.1239G>A
ENST00000371589.8:c.1189G>A	ENSP00000360645.4:p.Glu397Lys
ENST00000474902.5:n.835G>A
ENST00000535144.5:c.1081G>A	ENSP00000441398.2:p.Glu361Lys
ENST00000544448.5:c.1189G>A	ENSP00000444966.2:p.Glu397Lys
NM_016219.4:c.1189G>A	NP_057303.2:p.Glu397Lys
NR_045720.1:n.1262G>A
NR_045721.1:n.1393G>A
XM_006716945.2:c.1189G>A	XP_006717008.1:p.Glu397Lys
XM_006716945.4:c.1189G>A	XP_006717008.1:p.Glu397Lys
XM_017014239.1:c.892G>A	XP_016869728.1:p.Glu298Lys
XM_024447403.1:c.1189G>A	XP_024303171.1:p.Glu397Lys
XR_001746176.1:n.1379G>A
NM_016219.5:c.1189G>A MANE Select	NP_057303.2:p.Glu397Lys
NR_045720.2:n.1204G>A
NR_045721.2:n.1335G>A