Canonical Allele Identifier: CA3720394

Gene: MPIG6B

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31724604C>A , CM000668.2:g.31724604C>A	GRCh38
NC_000006.11:g.31692381C>A , CM000668.1:g.31692381C>A	GRCh37
NC_000006.10:g.31800360C>A	NCBI36
NG_029044.1:g.6261C>A
NG_029044.2:g.6261C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_138272.3:c.518C>A MANE Select	NP_612116.1:p.Pro173Gln
ENST00000649779.1:c.518C>A MANE Select	ENSP00000497720.1:p.Pro173Gln
NM_025260.3:c.518C>A	NP_079536.2:p.Pro173Gln
NM_025260.4:c.518C>A	NP_079536.2:p.Pro173Gln
NM_138272.2:c.518C>A	NP_612116.1:p.Pro173Gln
NM_138273.2:c.427C>A	NP_612117.1:p.Arg143=
NM_138273.3:c.427C>A	NP_612117.1:p.Arg143=
NM_138274.2:c.410-142C>A	NP_612118.1:n.410-142C>A
NM_138274.3:c.410-142C>A	NP_612118.1:n.410-142C>A
NM_138275.2:c.410-161C>A	NP_612119.1:n.410-161C>A
NM_138275.3:c.410-161C>A	NP_612119.1:n.410-161C>A
NM_138277.2:c.518C>A	NP_612121.1:p.Pro173Gln
NM_138277.3:c.518C>A	NP_612121.1:p.Pro173Gln
ENST00000375804.6:c.410-142C>A	ENSP00000364962.2:n.410-142C>A
ENST00000375805.6:c.427C>A	ENSP00000364963.2:p.Arg143=
ENST00000375806.2:c.518C>A	ENSP00000364964.2:p.Pro173Gln
ENST00000375809.7:c.518C>A	ENSP00000364967.3:p.Pro173Gln
ENST00000375810.8:c.518C>A	ENSP00000364968.4:p.Pro173Gln
ENST00000375814.7:c.410-161C>A	ENSP00000364972.3:n.410-161C>A
ENST00000460663.5:n.725C>A
ENST00000471545.1:n.518C>A
ENST00000480039.5:c.518C>A	ENSP00000419306.1:p.Pro173Gln
ENST00000485548.5:c.360C>A	ENSP00000420355.1:p.Thr120=
XM_011514920.1:c.566C>A	XP_011513222.1:p.Pro189Gln
XM_011514920.2:c.566C>A	XP_011513222.1:p.Pro189Gln
XM_011514921.1:c.566C>A	XP_011513223.1:p.Pro189Gln
XM_011514921.2:c.566C>A	XP_011513223.1:p.Pro189Gln
XM_017011330.1:c.475C>A	XP_016866819.1:p.Arg159=
XM_017011331.1:c.427C>A	XP_016866820.1:p.Arg143=
XM_017011332.1:c.475C>A	XP_016866821.1:p.Arg159=
XM_017011333.1:c.475C>A	XP_016866822.1:p.Arg159=