Canonical Allele Identifier: CA3720423

Gene: MPIG6B

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31724781C>T , CM000668.2:g.31724781C>T	GRCh38
NC_000006.11:g.31692558C>T , CM000668.1:g.31692558C>T	GRCh37
NC_000006.10:g.31800537C>T	NCBI36
NG_029044.1:g.6438C>T
NG_029044.2:g.6438C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138272.3:c.558C>T MANE Select	NP_612116.1:p.Thr186=
ENST00000649779.1:c.558C>T MANE Select	ENSP00000497720.1:p.Thr186=
NM_025260.3:c.577C>T	NP_079536.2:p.Arg193Ter
NM_025260.4:c.577C>T	NP_079536.2:p.Arg193Ter
NM_138272.2:c.558C>T	NP_612116.1:p.Thr186=
NM_138273.2:c.486C>T	NP_612117.1:p.Thr162=
NM_138273.3:c.486C>T	NP_612117.1:p.Thr162=
NM_138274.2:c.445C>T	NP_612118.1:p.Arg149Ter
NM_138274.3:c.445C>T	NP_612118.1:p.Arg149Ter
NM_138275.2:c.426C>T	NP_612119.1:p.Thr142=
NM_138275.3:c.426C>T	NP_612119.1:p.Thr142=
NM_138277.2:c.577C>T	NP_612121.1:p.Arg193Ter
NM_138277.3:c.577C>T	NP_612121.1:p.Arg193Ter
ENST00000375804.6:c.445C>T	ENSP00000364962.2:p.Arg149Ter
ENST00000375805.6:c.486C>T	ENSP00000364963.2:p.Thr162=
ENST00000375806.2:c.558C>T	ENSP00000364964.2:p.Thr186=
ENST00000375809.7:c.577C>T	ENSP00000364967.3:p.Arg193Ter
ENST00000375810.8:c.577C>T	ENSP00000364968.4:p.Arg193Ter
ENST00000375814.7:c.426C>T	ENSP00000364972.3:p.Thr142=
ENST00000460663.5:n.902C>T
ENST00000471545.1:n.695C>T
ENST00000480039.5:c.558C>T	ENSP00000419306.1:p.Thr186=
ENST00000485548.5:c.*41C>T	ENSP00000420355.1:n.*41C>T
XM_011514920.1:c.606C>T	XP_011513222.1:p.Thr202=
XM_011514920.2:c.606C>T	XP_011513222.1:p.Thr202=
XM_011514921.1:c.625C>T	XP_011513223.1:p.Arg209Ter
XM_011514921.2:c.625C>T	XP_011513223.1:p.Arg209Ter
XM_017011330.1:c.652C>T	XP_016866819.1:p.Arg218Ter
XM_017011331.1:c.604C>T	XP_016866820.1:p.Arg202Ter
XM_017011332.1:c.534C>T	XP_016866821.1:p.Thr178=
XM_017011333.1:c.*5C>T	XP_016866822.1:n.*5C>T