Canonical Allele Identifier: CA153657

Gene: MAN1B1

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137108537T>C , CM000671.2:g.137108537T>C	GRCh38
NC_000009.11:g.140002989T>C , CM000671.1:g.140002989T>C	GRCh37
NC_000009.10:g.139122810T>C	NCBI36
NG_031978.1:g.26611T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371587.9:c.*1723T>C	ENSP00000483132.2:n.*1723T>C
ENST00000475449.7:c.1860T>C	ENSP00000448658.2:p.Asp620=
ENST00000535028.6:n.4309T>C
ENST00000535144.6:c.*575T>C	ENSP00000441398.3:n.*575T>C
ENST00000536268.2:n.3443T>C
ENST00000536349.6:n.4180T>C
ENST00000544448.6:c.*329T>C	ENSP00000444966.2:n.*329T>C
ENST00000545539.6:c.*1948T>C	ENSP00000440314.2:n.*1948T>C
ENST00000550113.2:n.597T>C
ENST00000682117.1:c.2007T>C	ENSP00000507328.1:p.Asp669=
ENST00000682212.1:c.2042T>C	ENSP00000508217.1:p.Met681Thr
ENST00000682425.1:n.2296T>C
ENST00000682502.1:n.2753T>C
ENST00000682881.1:c.1903T>C	ENSP00000506762.1:p.Cys635Arg
ENST00000682964.1:n.2492T>C
ENST00000683135.1:c.*368T>C	ENSP00000507130.1:n.*368T>C
ENST00000683324.1:c.2043T>C	ENSP00000507373.1:p.Asp681=
ENST00000683355.1:c.*260T>C	ENSP00000508045.1:n.*260T>C
ENST00000683475.1:c.*819T>C	ENSP00000507749.1:n.*819T>C
ENST00000683529.1:n.1255T>C
ENST00000683979.1:c.*5992T>C	ENSP00000507362.1:n.*5992T>C
ENST00000683987.1:c.*88T>C	ENSP00000507715.1:n.*88T>C
ENST00000684138.1:c.*1748T>C	ENSP00000506755.1:n.*1748T>C
ENST00000684144.1:c.2040T>C	ENSP00000508213.1:p.Asp680=
ENST00000684229.1:n.2172T>C
ENST00000684272.1:c.*1951T>C	ENSP00000506776.1:n.*1951T>C
ENST00000684297.1:c.*927T>C	ENSP00000507160.1:n.*927T>C
ENST00000684336.1:n.5196T>C
ENST00000684366.1:c.*529T>C	ENSP00000507668.1:n.*529T>C
ENST00000684645.1:n.6518T>C
ENST00000684759.1:c.2039T>C	ENSP00000507818.1:p.Met680Thr
ENST00000371589.9:c.2046T>C MANE Select	ENSP00000360645.4:p.Asp682=
ENST00000371589.8:c.2046T>C	ENSP00000360645.4:p.Asp682=
ENST00000474902.5:n.1692T>C
ENST00000475449.6:c.323T>C
ENST00000480100.3:n.2839T>C
ENST00000535028.5:n.3242T>C
ENST00000536349.5:n.4404T>C
ENST00000540391.5:n.3296T>C
ENST00000544448.5:c.*368T>C	ENSP00000444966.2:n.*368T>C
ENST00000550113.1:c.319T>C
NM_016219.4:c.2046T>C	NP_057303.2:p.Asp682=
NR_045720.1:n.2094T>C
NR_045721.1:n.2250T>C
XM_006716945.4:c.*575T>C	XP_006717008.1:n.*575T>C
XM_017014239.1:c.*575T>C	XP_016869728.1:n.*575T>C
XM_024447403.1:c.2129T>C	XP_024303171.1:p.Met710Thr
XR_001746176.1:n.2211T>C
NM_016219.5:c.2046T>C MANE Select	NP_057303.2:p.Asp682=
NR_045720.2:n.2036T>C
NR_045721.2:n.2192T>C