Canonical Allele Identifier: CA4187722

Gene: GPNMB

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23270076C>T , CM000669.2:g.23270076C>T	GRCh38
NC_000007.13:g.23309695C>T , CM000669.1:g.23309695C>T	GRCh37
NC_000007.12:g.23276220C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002510.3:c.1330C>T MANE Select	NP_002501.1:p.Arg444Ter
ENST00000258733.9:c.1330C>T MANE Select	ENSP00000258733.5:p.Arg444Ter
NM_001005340.1:c.1366C>T	NP_001005340.1:p.Arg456Ter
NM_001005340.2:c.1366C>T	NP_001005340.1:p.Arg456Ter
NM_002510.2:c.1330C>T	NP_002501.1:p.Arg444Ter
ENST00000258733.8:c.1330C>T	ENSP00000258733.4:p.Arg444Ter
ENST00000381990.6:c.1366C>T	ENSP00000371420.2:p.Arg456Ter
ENST00000470994.1:n.34C>T
ENST00000479625.1:n.689C>T
ENST00000647578.1:c.1414C>T	ENSP00000497362.1:p.Arg472Ter
XM_005249578.1:c.1366C>T	XP_005249635.1:p.Arg456Ter
XM_005249578.3:c.1366C>T	XP_005249635.1:p.Arg456Ter
XM_017011676.2:c.1450C>T	XP_016867165.1:p.Arg484Ter
XM_017011677.2:c.1450C>T	XP_016867166.1:p.Arg484Ter
XM_017011678.2:c.1330C>T	XP_016867167.1:p.Arg444Ter