Canonical Allele Identifier: CA129197

Gene: MAN1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137101088C>T , CM000671.2:g.137101088C>T	GRCh38
NC_000009.11:g.139995540C>T , CM000671.1:g.139995540C>T	GRCh37
NC_000009.10:g.139115361C>T	NCBI36
NG_031978.1:g.19162C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_016219.5:c.1000C>T MANE Select	NP_057303.2:p.Arg334Cys
ENST00000371589.9:c.1000C>T MANE Select	ENSP00000360645.4:p.Arg334Cys
NM_016219.4:c.1000C>T	NP_057303.2:p.Arg334Cys
NR_045720.1:n.1073C>T
NR_045720.2:n.1015C>T
NR_045721.1:n.1204C>T
NR_045721.2:n.1146C>T
ENST00000371587.8:c.1050C>T	ENSP00000483132.1:n.1050C>T
ENST00000371587.9:c.*702C>T	ENSP00000483132.2:n.*702C>T
ENST00000371589.8:c.1000C>T	ENSP00000360645.4:p.Arg334Cys
ENST00000474902.5:n.646C>T
ENST00000475449.7:c.814C>T	ENSP00000448658.2:p.Arg272Cys
ENST00000535144.5:c.892C>T	ENSP00000441398.2:p.Arg298Cys
ENST00000535144.6:c.1000C>T	ENSP00000441398.3:p.Arg334Cys
ENST00000542372.2:c.916C>T	ENSP00000444189.2:p.Arg306Cys
ENST00000544448.5:c.1000C>T	ENSP00000444966.2:p.Arg334Cys
ENST00000544448.6:c.1000C>T	ENSP00000444966.2:p.Arg334Cys
ENST00000545539.6:c.*905C>T	ENSP00000440314.2:n.*905C>T
ENST00000682117.1:c.1000C>T	ENSP00000507328.1:p.Arg334Cys
ENST00000682210.1:n.2147C>T
ENST00000682212.1:c.1000C>T	ENSP00000508217.1:p.Arg334Cys
ENST00000682425.1:n.1250C>T
ENST00000682881.1:c.1000C>T	ENSP00000506762.1:p.Arg334Cys
ENST00000682964.1:n.348C>T
ENST00000683135.1:c.1000C>T	ENSP00000507130.1:p.Arg334Cys
ENST00000683324.1:c.997C>T	ENSP00000507373.1:p.Arg333Cys
ENST00000683355.1:c.1000C>T	ENSP00000508045.1:p.Arg334Cys
ENST00000683475.1:c.1000C>T	ENSP00000507749.1:p.Arg334Cys
ENST00000683979.1:c.*702C>T	ENSP00000507362.1:n.*702C>T
ENST00000683987.1:c.1000C>T	ENSP00000507715.1:p.Arg334Cys
ENST00000684138.1:c.*702C>T	ENSP00000506755.1:n.*702C>T
ENST00000684144.1:c.997C>T	ENSP00000508213.1:p.Arg333Cys
ENST00000684229.1:n.1043C>T
ENST00000684272.1:c.*905C>T	ENSP00000506776.1:n.*905C>T
ENST00000684297.1:c.1000C>T	ENSP00000507160.1:p.Arg334Cys
ENST00000684366.1:c.1000C>T	ENSP00000507668.1:p.Arg334Cys
ENST00000684645.1:n.1020C>T
ENST00000684759.1:c.1000C>T	ENSP00000507818.1:p.Arg334Cys
XM_006716945.2:c.1000C>T	XP_006717008.1:p.Arg334Cys
XM_006716945.4:c.1000C>T	XP_006717008.1:p.Arg334Cys
XM_017014239.1:c.703C>T	XP_016869728.1:p.Arg235Cys
XM_024447403.1:c.1000C>T	XP_024303171.1:p.Arg334Cys
XR_001746176.1:n.1190C>T