Canonical Allele Identifier: CA13103318

Gene: MAN1B1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137107124C>T , CM000671.2:g.137107124C>T	GRCh38
NC_000009.11:g.140001576C>T , CM000671.1:g.140001576C>T	GRCh37
NC_000009.10:g.139121397C>T	NCBI36
NG_031978.1:g.25198C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371587.9:c.*1269-151C>T	ENSP00000483132.2:n.*1269-151C>T
ENST00000475449.7:c.1381-126C>T	ENSP00000448658.2:n.1381-126C>T
ENST00000535028.6:n.3772-151C>T
ENST00000535144.6:c.1567-126C>T	ENSP00000441398.3:n.1567-126C>T
ENST00000536268.2:n.2113C>T
ENST00000536349.6:n.3726-151C>T
ENST00000542372.2:c.1483-126C>T	ENSP00000444189.2:n.1483-126C>T
ENST00000544448.6:c.1567-151C>T	ENSP00000444966.2:n.1567-151C>T
ENST00000545539.6:c.*1469-126C>T	ENSP00000440314.2:n.*1469-126C>T
ENST00000682117.1:c.1567-126C>T	ENSP00000507328.1:n.1567-126C>T
ENST00000682212.1:c.1567-126C>T	ENSP00000508217.1:n.1567-126C>T
ENST00000682425.1:n.1817-126C>T
ENST00000682502.1:n.1574-151C>T
ENST00000682881.1:c.1567-126C>T	ENSP00000506762.1:n.1567-126C>T
ENST00000682964.1:n.1288-126C>T
ENST00000683135.1:c.1567-151C>T	ENSP00000507130.1:n.1567-151C>T
ENST00000683324.1:c.1564-126C>T	ENSP00000507373.1:n.1564-126C>T
ENST00000683355.1:c.1567-126C>T	ENSP00000508045.1:n.1567-126C>T
ENST00000683475.1:c.*340-126C>T	ENSP00000507749.1:n.*340-126C>T
ENST00000683529.1:n.805-151C>T
ENST00000683979.1:c.*5513-126C>T	ENSP00000507362.1:n.*5513-126C>T
ENST00000683987.1:c.1567-126C>T	ENSP00000507715.1:n.1567-126C>T
ENST00000684138.1:c.*1269-126C>T	ENSP00000506755.1:n.*1269-126C>T
ENST00000684144.1:c.1561-126C>T	ENSP00000508213.1:n.1561-126C>T
ENST00000684229.1:n.1610-126C>T
ENST00000684272.1:c.*1472-126C>T	ENSP00000506776.1:n.*1472-126C>T
ENST00000684297.1:c.*448-126C>T	ENSP00000507160.1:n.*448-126C>T
ENST00000684336.1:n.3909-126C>T
ENST00000684366.1:c.*50-126C>T	ENSP00000507668.1:n.*50-126C>T
ENST00000684645.1:n.6039-126C>T
ENST00000684759.1:c.1567-126C>T	ENSP00000507818.1:n.1567-126C>T
ENST00000371589.9:c.1567-126C>T MANE Select	ENSP00000360645.4:n.1567-126C>T
ENST00000371589.8:c.1567-126C>T	ENSP00000360645.4:n.1567-126C>T
ENST00000474902.5:n.1213-126C>T
ENST00000480100.3:n.2385-151C>T
ENST00000535028.5:n.2788-151C>T
ENST00000535144.5:c.1459-126C>T	ENSP00000441398.2:n.1459-126C>T
ENST00000536349.5:n.3925-126C>T
ENST00000540391.5:n.2817-126C>T
ENST00000544448.5:c.1567-151C>T	ENSP00000444966.2:n.1567-151C>T
NM_016219.4:c.1567-126C>T	NP_057303.2:n.1567-126C>T
NR_045720.1:n.1640-151C>T
NR_045721.1:n.1771-126C>T
XM_006716945.2:c.1567-126C>T	XP_006717008.1:n.1567-126C>T
XM_006716945.4:c.1567-126C>T	XP_006717008.1:n.1567-126C>T
XM_017014239.1:c.1270-126C>T	XP_016869728.1:n.1270-126C>T
XM_024447403.1:c.1567-126C>T	XP_024303171.1:n.1567-126C>T
XR_001746176.1:n.1757-151C>T
NM_016219.5:c.1567-126C>T MANE Select	NP_057303.2:n.1567-126C>T
NR_045720.2:n.1582-151C>T
NR_045721.2:n.1713-126C>T