Canonical Allele Identifier: CA13117200

Gene: MAN1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137089175T>C , CM000671.2:g.137089175T>C	GRCh38
NC_000009.11:g.139983627T>C , CM000671.1:g.139983627T>C	GRCh37
NC_000009.10:g.139103448T>C	NCBI36
NG_031978.1:g.7249T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016219.5:c.465+170T>C MANE Select	NP_057303.2:n.465+170T>C
ENST00000371589.9:c.465+170T>C MANE Select	ENSP00000360645.4:n.465+170T>C
NM_016219.4:c.465+170T>C	NP_057303.2:n.465+170T>C
NR_045720.1:n.538+170T>C
NR_045720.2:n.480+170T>C
NR_045721.1:n.669+170T>C
NR_045721.2:n.611+170T>C
ENST00000371587.8:c.515+170T>C	ENSP00000483132.1:n.515+170T>C
ENST00000371587.9:c.*167+170T>C	ENSP00000483132.2:n.*167+170T>C
ENST00000371589.8:c.465+170T>C	ENSP00000360645.4:n.465+170T>C
ENST00000475449.7:c.465+170T>C	ENSP00000448658.2:n.465+170T>C
ENST00000535144.5:c.357+170T>C	ENSP00000441398.2:n.357+170T>C
ENST00000535144.6:c.465+170T>C	ENSP00000441398.3:n.465+170T>C
ENST00000540346.2:n.455+170T>C
ENST00000542372.1:c.298+170T>C
ENST00000542372.2:c.381+170T>C	ENSP00000444189.2:n.381+170T>C
ENST00000544448.5:c.465+170T>C	ENSP00000444966.2:n.465+170T>C
ENST00000544448.6:c.465+170T>C	ENSP00000444966.2:n.465+170T>C
ENST00000545539.5:c.529+170T>C	ENSP00000440314.1:n.529+170T>C
ENST00000545539.6:c.*370+170T>C	ENSP00000440314.2:n.*370+170T>C
ENST00000682117.1:c.465+170T>C	ENSP00000507328.1:n.465+170T>C
ENST00000682210.1:n.489+170T>C
ENST00000682212.1:c.465+170T>C	ENSP00000508217.1:n.465+170T>C
ENST00000682425.1:n.715+170T>C
ENST00000682881.1:c.465+170T>C	ENSP00000506762.1:n.465+170T>C
ENST00000683135.1:c.465+170T>C	ENSP00000507130.1:n.465+170T>C
ENST00000683324.1:c.465+170T>C	ENSP00000507373.1:n.465+170T>C
ENST00000683355.1:c.465+170T>C	ENSP00000508045.1:n.465+170T>C
ENST00000683475.1:c.465+170T>C	ENSP00000507749.1:n.465+170T>C
ENST00000683979.1:c.*167+170T>C	ENSP00000507362.1:n.*167+170T>C
ENST00000683987.1:c.465+170T>C	ENSP00000507715.1:n.465+170T>C
ENST00000684138.1:c.*167+170T>C	ENSP00000506755.1:n.*167+170T>C
ENST00000684144.1:c.465+170T>C	ENSP00000508213.1:n.465+170T>C
ENST00000684229.1:n.508+170T>C
ENST00000684272.1:c.*370+170T>C	ENSP00000506776.1:n.*370+170T>C
ENST00000684297.1:c.465+170T>C	ENSP00000507160.1:n.465+170T>C
ENST00000684366.1:c.465+170T>C	ENSP00000507668.1:n.465+170T>C
ENST00000684645.1:n.485+170T>C
ENST00000684759.1:c.465+170T>C	ENSP00000507818.1:n.465+170T>C
XM_006716945.2:c.465+170T>C	XP_006717008.1:n.465+170T>C
XM_006716945.4:c.465+170T>C	XP_006717008.1:n.465+170T>C
XM_017014239.1:c.168+170T>C	XP_016869728.1:n.168+170T>C
XM_024447403.1:c.465+170T>C	XP_024303171.1:n.465+170T>C
XR_001746176.1:n.655+170T>C