Canonical Allele Identifier: CA5359350

Gene: MAN1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137107422C>T , CM000671.2:g.137107422C>T	GRCh38
NC_000009.11:g.140001874C>T , CM000671.1:g.140001874C>T	GRCh37
NC_000009.10:g.139121695C>T	NCBI36
NG_031978.1:g.25496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371587.9:c.*1416C>T	ENSP00000483132.2:n.*1416C>T
ENST00000475449.7:c.1553C>T	ENSP00000448658.2:p.Pro518Leu
ENST00000535028.6:n.3919C>T
ENST00000535144.6:c.1739C>T	ENSP00000441398.3:p.Pro580Leu
ENST00000536268.2:n.2411C>T
ENST00000536349.6:n.3873C>T
ENST00000542372.2:c.1655C>T	ENSP00000444189.2:p.Pro552Leu
ENST00000544448.6:c.*61C>T	ENSP00000444966.2:n.*61C>T
ENST00000545539.6:c.*1641C>T	ENSP00000440314.2:n.*1641C>T
ENST00000550113.2:n.290C>T
ENST00000682117.1:c.1739C>T	ENSP00000507328.1:p.Pro580Leu
ENST00000682212.1:c.1739C>T	ENSP00000508217.1:p.Pro580Leu
ENST00000682425.1:n.1989C>T
ENST00000682502.1:n.1721C>T
ENST00000682881.1:c.1739C>T	ENSP00000506762.1:p.Pro580Leu
ENST00000682964.1:n.1460C>T
ENST00000683135.1:c.*61C>T	ENSP00000507130.1:n.*61C>T
ENST00000683324.1:c.1736C>T	ENSP00000507373.1:p.Pro579Leu
ENST00000683355.1:c.1739C>T	ENSP00000508045.1:p.Pro580Leu
ENST00000683475.1:c.*512C>T	ENSP00000507749.1:n.*512C>T
ENST00000683529.1:n.952C>T
ENST00000683979.1:c.*5685C>T	ENSP00000507362.1:n.*5685C>T
ENST00000683987.1:c.1739C>T	ENSP00000507715.1:p.Pro580Leu
ENST00000684138.1:c.*1441C>T	ENSP00000506755.1:n.*1441C>T
ENST00000684144.1:c.1733C>T	ENSP00000508213.1:p.Pro578Leu
ENST00000684229.1:n.1782C>T
ENST00000684272.1:c.*1644C>T	ENSP00000506776.1:n.*1644C>T
ENST00000684297.1:c.*620C>T	ENSP00000507160.1:n.*620C>T
ENST00000684336.1:n.4081C>T
ENST00000684366.1:c.*222C>T	ENSP00000507668.1:n.*222C>T
ENST00000684645.1:n.6211C>T
ENST00000684759.1:c.1739C>T	ENSP00000507818.1:p.Pro580Leu
ENST00000371589.9:c.1739C>T MANE Select	ENSP00000360645.4:p.Pro580Leu
ENST00000371589.8:c.1739C>T	ENSP00000360645.4:p.Pro580Leu
ENST00000474902.5:n.1385C>T
ENST00000475449.6:c.159C>T
ENST00000480100.3:n.2532C>T
ENST00000535028.5:n.2935C>T
ENST00000535144.5:c.1631C>T	ENSP00000441398.2:p.Pro544Leu
ENST00000536268.1:n.253C>T
ENST00000536349.5:n.4097C>T
ENST00000540391.5:n.2989C>T
ENST00000544448.5:c.*61C>T	ENSP00000444966.2:n.*61C>T
ENST00000550113.1:c.51C>T
NM_016219.4:c.1739C>T	NP_057303.2:p.Pro580Leu
NR_045720.1:n.1787C>T
NR_045721.1:n.1943C>T
XM_006716945.2:c.1739C>T	XP_006717008.1:p.Pro580Leu
XM_006716945.4:c.1739C>T	XP_006717008.1:p.Pro580Leu
XM_017014239.1:c.1442C>T	XP_016869728.1:p.Pro481Leu
XM_024447403.1:c.1739C>T	XP_024303171.1:p.Pro580Leu
XR_001746176.1:n.1904C>T
NM_016219.5:c.1739C>T MANE Select	NP_057303.2:p.Pro580Leu
NR_045720.2:n.1729C>T
NR_045721.2:n.1885C>T