Canonical Allele Identifier: CA3720313

Gene: MPIG6B

Linked Data

• dbSNP Id: rs182774419
• ExAC: 6:31691702 C / G
• gnomAD v2: 6-31691702-C-G
• gnomAD v3: 6-31723925-C-G
• gnomAD v4: 6-31723925-C-G
• MyVariant Identifiers: chr6:g.31691702C>G (hg19) ; chr6:g.31723925C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31723925C>G , CM000668.2:g.31723925C>G	GRCh38
NC_000006.11:g.31691702C>G , CM000668.1:g.31691702C>G	GRCh37
NC_000006.10:g.31799681C>G	NCBI36
NG_029044.1:g.5582C>G
NG_029044.2:g.5582C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649779.1:c.348C>G MANE Select	ENSP00000497720.1:p.Ser116Arg
ENST00000375804.6:c.348C>G	ENSP00000364962.2:p.Ser116Arg
ENST00000375805.6:c.348C>G	ENSP00000364963.2:p.Ser116Arg
ENST00000375806.2:c.348C>G	ENSP00000364964.2:p.Ser116Arg
ENST00000375809.7:c.348C>G	ENSP00000364967.3:p.Ser116Arg
ENST00000375810.8:c.348C>G	ENSP00000364968.4:p.Ser116Arg
ENST00000375814.7:c.348C>G	ENSP00000364972.3:p.Ser116Arg
ENST00000460663.5:n.555C>G
ENST00000466312.5:n.352C>G
ENST00000471545.1:n.348C>G
ENST00000480039.5:c.348C>G	ENSP00000419306.1:p.Ser116Arg
ENST00000485548.5:c.268+80C>G	ENSP00000420355.1:n.268+80C>G
NM_025260.3:c.348C>G	NP_079536.2:p.Ser116Arg
NM_138272.2:c.348C>G	NP_612116.1:p.Ser116Arg
NM_138273.2:c.348C>G	NP_612117.1:p.Ser116Arg
NM_138274.2:c.348C>G	NP_612118.1:p.Ser116Arg
NM_138275.2:c.348C>G	NP_612119.1:p.Ser116Arg
NM_138277.2:c.348C>G	NP_612121.1:p.Ser116Arg
XM_011514920.1:c.396C>G	XP_011513222.1:p.Ser132Arg
XM_011514921.1:c.396C>G	XP_011513223.1:p.Ser132Arg
XM_011514920.2:c.396C>G	XP_011513222.1:p.Ser132Arg
XM_011514921.2:c.396C>G	XP_011513223.1:p.Ser132Arg
XM_017011330.1:c.396C>G	XP_016866819.1:p.Ser132Arg
XM_017011331.1:c.348C>G	XP_016866820.1:p.Ser116Arg
XM_017011332.1:c.396C>G	XP_016866821.1:p.Ser132Arg
XM_017011333.1:c.396C>G	XP_016866822.1:p.Ser132Arg
NM_025260.4:c.348C>G	NP_079536.2:p.Ser116Arg
NM_138272.3:c.348C>G MANE Select	NP_612116.1:p.Ser116Arg
NM_138273.3:c.348C>G	NP_612117.1:p.Ser116Arg
NM_138274.3:c.348C>G	NP_612118.1:p.Ser116Arg
NM_138275.3:c.348C>G	NP_612119.1:p.Ser116Arg
NM_138277.3:c.348C>G	NP_612121.1:p.Ser116Arg