Canonical Allele Identifier: CA4187299

Gene: GPNMB

Linked Data

• dbSNP Id: rs199346
• ExAC: 7:23293772 C / G
• gnomAD v2: 7-23293772-C-G
• gnomAD v3: 7-23254153-C-G
• gnomAD v4: 7-23254153-C-G
• MyVariant Identifiers: chr7:g.23293772C>G (hg19) ; chr7:g.23293772_23293773delinsGT (hg19) ; chr7:g.23254153C>G (hg38) ; chr7:g.23254153_23254154delinsGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.23254153C>G , CM000669.2:g.23254153C>G	GRCh38
NC_000007.13:g.23293772C>G , CM000669.1:g.23293772C>G	GRCh37
NC_000007.12:g.23260297C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000258733.9:c.224-16C>G MANE Select	ENSP00000258733.5:n.224-16C>G
ENST00000647578.1:c.224-16C>G	ENSP00000497362.1:n.224-16C>G
ENST00000258733.8:c.224-16C>G	ENSP00000258733.4:n.224-16C>G
ENST00000381990.6:c.224-16C>G	ENSP00000371420.2:n.224-16C>G
ENST00000409458.3:c.224-16C>G	ENSP00000386476.3:n.224-16C>G
ENST00000465673.5:n.402-16C>G
ENST00000487890.5:n.415-16C>G
ENST00000492512.1:n.304-16C>G
ENST00000492858.6:n.426-16C>G
NM_001005340.1:c.224-16C>G	NP_001005340.1:n.224-16C>G
NM_002510.2:c.224-16C>G	NP_002501.1:n.224-16C>G
XM_005249578.1:c.224-16C>G	XP_005249635.1:n.224-16C>G
XM_005249578.3:c.224-16C>G	XP_005249635.1:n.224-16C>G
XM_017011676.2:c.224-16C>G	XP_016867165.1:n.224-16C>G
XM_017011677.2:c.224-16C>G	XP_016867166.1:n.224-16C>G
XM_017011678.2:c.224-16C>G	XP_016867167.1:n.224-16C>G
NM_001005340.2:c.224-16C>G	NP_001005340.1:n.224-16C>G
NM_002510.3:c.224-16C>G MANE Select	NP_002501.1:n.224-16C>G