Canonical Allele Identifier: CA363371777

Gene: MPIG6B

Linked Data

• dbSNP Id: rs1220976037
• gnomAD v2: 6-31691685-C-T
• gnomAD v4: 6-31723908-C-T
• MyVariant Identifiers: chr6:g.31691685C>T (hg19) ; chr6:g.31723908C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31723908C>T , CM000668.2:g.31723908C>T	GRCh38
NC_000006.11:g.31691685C>T , CM000668.1:g.31691685C>T	GRCh37
NC_000006.10:g.31799664C>T	NCBI36
NG_029044.1:g.5565C>T
NG_029044.2:g.5565C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000649779.1:c.331C>T MANE Select	ENSP00000497720.1:p.Arg111Cys
ENST00000375804.6:c.331C>T	ENSP00000364962.2:p.Arg111Cys
ENST00000375805.6:c.331C>T	ENSP00000364963.2:p.Arg111Cys
ENST00000375806.2:c.331C>T	ENSP00000364964.2:p.Arg111Cys
ENST00000375809.7:c.331C>T	ENSP00000364967.3:p.Arg111Cys
ENST00000375810.8:c.331C>T	ENSP00000364968.4:p.Arg111Cys
ENST00000375814.7:c.331C>T	ENSP00000364972.3:p.Arg111Cys
ENST00000460663.5:n.538C>T
ENST00000466312.5:n.335C>T
ENST00000471545.1:n.331C>T
ENST00000480039.5:c.331C>T	ENSP00000419306.1:p.Arg111Cys
ENST00000485548.5:c.268+63C>T	ENSP00000420355.1:n.268+63C>T
NM_025260.3:c.331C>T	NP_079536.2:p.Arg111Cys
NM_138272.2:c.331C>T	NP_612116.1:p.Arg111Cys
NM_138273.2:c.331C>T	NP_612117.1:p.Arg111Cys
NM_138274.2:c.331C>T	NP_612118.1:p.Arg111Cys
NM_138275.2:c.331C>T	NP_612119.1:p.Arg111Cys
NM_138277.2:c.331C>T	NP_612121.1:p.Arg111Cys
XM_011514920.1:c.379C>T	XP_011513222.1:p.Arg127Cys
XM_011514921.1:c.379C>T	XP_011513223.1:p.Arg127Cys
XM_011514920.2:c.379C>T	XP_011513222.1:p.Arg127Cys
XM_011514921.2:c.379C>T	XP_011513223.1:p.Arg127Cys
XM_017011330.1:c.379C>T	XP_016866819.1:p.Arg127Cys
XM_017011331.1:c.331C>T	XP_016866820.1:p.Arg111Cys
XM_017011332.1:c.379C>T	XP_016866821.1:p.Arg127Cys
XM_017011333.1:c.379C>T	XP_016866822.1:p.Arg127Cys
NM_025260.4:c.331C>T	NP_079536.2:p.Arg111Cys
NM_138272.3:c.331C>T MANE Select	NP_612116.1:p.Arg111Cys
NM_138273.3:c.331C>T	NP_612117.1:p.Arg111Cys
NM_138274.3:c.331C>T	NP_612118.1:p.Arg111Cys
NM_138275.3:c.331C>T	NP_612119.1:p.Arg111Cys
NM_138277.3:c.331C>T	NP_612121.1:p.Arg111Cys