Canonical Allele Identifier: CA5359537
Community Standard Title: NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)
Gene: MAN1B1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137108482C>T , CM000671.2:g.137108482C>T GRCh38
NC_000009.11:g.140002934C>T , CM000671.1:g.140002934C>T GRCh37
NC_000009.10:g.139122755C>T NCBI36
NG_031978.1:g.26556C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016219.5:c.1991C>T MANE Select NP_057303.2:p.Thr664Met
ENST00000371589.9:c.1991C>T MANE Select ENSP00000360645.4:p.Thr664Met
NM_016219.4:c.1991C>T NP_057303.2:p.Thr664Met
NR_045720.1:n.2039C>T
NR_045720.2:n.1981C>T
NR_045721.1:n.2195C>T
NR_045721.2:n.2137C>T
ENST00000371587.9:c.*1668C>T ENSP00000483132.2:n.*1668C>T
ENST00000371589.8:c.1991C>T ENSP00000360645.4:p.Thr664Met
ENST00000474902.5:n.1637C>T
ENST00000475449.6:c.317-49C>T
ENST00000475449.7:c.1805C>T ENSP00000448658.2:p.Thr602Met
ENST00000480100.3:n.2784C>T
ENST00000535028.5:n.3187C>T
ENST00000535028.6:n.4254C>T
ENST00000535144.6:c.*520C>T ENSP00000441398.3:n.*520C>T
ENST00000536268.2:n.3388C>T
ENST00000536349.5:n.4349C>T
ENST00000536349.6:n.4125C>T
ENST00000540391.5:n.3241C>T
ENST00000544448.5:c.*313C>T ENSP00000444966.2:n.*313C>T
ENST00000544448.6:c.*274C>T ENSP00000444966.2:n.*274C>T
ENST00000545539.6:c.*1893C>T ENSP00000440314.2:n.*1893C>T
ENST00000550113.1:c.264C>T
ENST00000550113.2:n.542C>T
ENST00000682117.1:c.1952C>T ENSP00000507328.1:p.Thr651Met
ENST00000682212.1:c.1987C>T ENSP00000508217.1:p.Arg663Cys
ENST00000682425.1:n.2241C>T
ENST00000682502.1:n.2698C>T
ENST00000682881.1:c.1897-49C>T ENSP00000506762.1:n.1897-49C>T
ENST00000682964.1:n.2437C>T
ENST00000683135.1:c.*313C>T ENSP00000507130.1:n.*313C>T
ENST00000683324.1:c.1988C>T ENSP00000507373.1:p.Thr663Met
ENST00000683355.1:c.*205C>T ENSP00000508045.1:n.*205C>T
ENST00000683475.1:c.*764C>T ENSP00000507749.1:n.*764C>T
ENST00000683529.1:n.1200C>T
ENST00000683979.1:c.*5937C>T ENSP00000507362.1:n.*5937C>T
ENST00000683987.1:c.*33C>T ENSP00000507715.1:n.*33C>T
ENST00000684138.1:c.*1693C>T ENSP00000506755.1:n.*1693C>T
ENST00000684144.1:c.1985C>T ENSP00000508213.1:p.Thr662Met
ENST00000684229.1:n.2117C>T
ENST00000684272.1:c.*1896C>T ENSP00000506776.1:n.*1896C>T
ENST00000684297.1:c.*872C>T ENSP00000507160.1:n.*872C>T
ENST00000684336.1:n.5141C>T
ENST00000684366.1:c.*474C>T ENSP00000507668.1:n.*474C>T
ENST00000684645.1:n.6463C>T
ENST00000684759.1:c.1984C>T ENSP00000507818.1:p.Arg662Cys
XM_006716945.4:c.*520C>T XP_006717008.1:n.*520C>T
XM_017014239.1:c.*520C>T XP_016869728.1:n.*520C>T
XM_024447403.1:c.2074C>T XP_024303171.1:p.Arg692Cys
XR_001746176.1:n.2156C>T