Canonical Allele Identifier: CA375709242

Gene: MAN1B1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137108538G>A , CM000671.2:g.137108538G>A	GRCh38
NC_000009.11:g.140002990G>A , CM000671.1:g.140002990G>A	GRCh37
NC_000009.10:g.139122811G>A	NCBI36
NG_031978.1:g.26612G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371587.9:c.*1724G>A	ENSP00000483132.2:n.*1724G>A
ENST00000475449.7:c.1861G>A	ENSP00000448658.2:p.Ala621Thr
ENST00000535028.6:n.4310G>A
ENST00000535144.6:c.*576G>A	ENSP00000441398.3:n.*576G>A
ENST00000536268.2:n.3444G>A
ENST00000536349.6:n.4181G>A
ENST00000544448.6:c.*330G>A	ENSP00000444966.2:n.*330G>A
ENST00000545539.6:c.*1949G>A	ENSP00000440314.2:n.*1949G>A
ENST00000550113.2:n.598G>A
ENST00000682117.1:c.2008G>A	ENSP00000507328.1:p.Ala670Thr
ENST00000682212.1:c.2043G>A	ENSP00000508217.1:p.Met681Ile
ENST00000682425.1:n.2297G>A
ENST00000682502.1:n.2754G>A
ENST00000682881.1:c.1904G>A	ENSP00000506762.1:p.Cys635Tyr
ENST00000682964.1:n.2493G>A
ENST00000683135.1:c.*369G>A	ENSP00000507130.1:n.*369G>A
ENST00000683324.1:c.2044G>A	ENSP00000507373.1:p.Ala682Thr
ENST00000683355.1:c.*261G>A	ENSP00000508045.1:n.*261G>A
ENST00000683475.1:c.*820G>A	ENSP00000507749.1:n.*820G>A
ENST00000683529.1:n.1256G>A
ENST00000683979.1:c.*5993G>A	ENSP00000507362.1:n.*5993G>A
ENST00000683987.1:c.*89G>A	ENSP00000507715.1:n.*89G>A
ENST00000684138.1:c.*1749G>A	ENSP00000506755.1:n.*1749G>A
ENST00000684144.1:c.2041G>A	ENSP00000508213.1:p.Ala681Thr
ENST00000684229.1:n.2173G>A
ENST00000684272.1:c.*1952G>A	ENSP00000506776.1:n.*1952G>A
ENST00000684297.1:c.*928G>A	ENSP00000507160.1:n.*928G>A
ENST00000684336.1:n.5197G>A
ENST00000684366.1:c.*530G>A	ENSP00000507668.1:n.*530G>A
ENST00000684645.1:n.6519G>A
ENST00000684759.1:c.2040G>A	ENSP00000507818.1:p.Met680Ile
ENST00000371589.9:c.2047G>A MANE Select	ENSP00000360645.4:p.Ala683Thr
ENST00000371589.8:c.2047G>A	ENSP00000360645.4:p.Ala683Thr
ENST00000474902.5:n.1693G>A
ENST00000475449.6:c.324G>A
ENST00000480100.3:n.2840G>A
ENST00000535028.5:n.3243G>A
ENST00000536349.5:n.4405G>A
ENST00000540391.5:n.3297G>A
ENST00000544448.5:c.*369G>A	ENSP00000444966.2:n.*369G>A
ENST00000550113.1:c.320G>A
NM_016219.4:c.2047G>A	NP_057303.2:p.Ala683Thr
NR_045720.1:n.2095G>A
NR_045721.1:n.2251G>A
XM_006716945.4:c.*576G>A	XP_006717008.1:n.*576G>A
XM_017014239.1:c.*576G>A	XP_016869728.1:n.*576G>A
XM_024447403.1:c.2130G>A	XP_024303171.1:p.Met710Ile
XR_001746176.1:n.2212G>A
NM_016219.5:c.2047G>A MANE Select	NP_057303.2:p.Ala683Thr
NR_045720.2:n.2037G>A
NR_045721.2:n.2193G>A