Canonical Allele Identifier: CA144570

Gene: GMPPB

Linked Data

• ClinVar Variation Id: 60547
• ClinVar RCV Id: RCV000054441 ; RCV000440664 ; RCV000501778 ; RCV000623470 ; RCV000651278 ; RCV001330455
• dbSNP Id: rs199922550
• ExAC: 3:49759280 C / T
• gnomAD v2: 3-49759280-C-T
• gnomAD v3: 3-49721847-C-T
• gnomAD v4: 3-49721847-C-T
• MyVariant Identifiers: chr3:g.49759280C>T (hg19) ; chr3:g.49721847C>T (hg38)
• PubMed: PMID:19901254 ; PMID:23768512 ; PMID:25681410 ; PMID:25770200 ; PMID:26133662

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49721847C>T , CM000665.2:g.49721847C>T	GRCh38
NC_000003.11:g.49759280C>T , CM000665.1:g.49759280C>T	GRCh37
NC_000003.10:g.49734284C>T	NCBI36
NG_011603.1:g.37291C>T
NG_033731.1:g.7128G>A
NG_033731.2:g.7128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308388.7:c.988G>A MANE Select	ENSP00000311130.6:p.Val330Ile
ENST00000481959.2:n.1561G>A
ENST00000495627.2:c.1096G>A	ENSP00000503768.1:p.Val366Ile
ENST00000677393.1:c.*5G>A	ENSP00000503880.1:n.*5G>A
ENST00000678010.1:c.622G>A	ENSP00000503176.1:p.Val208Ile
ENST00000678208.1:n.1422G>A
ENST00000678853.1:c.*279G>A	ENSP00000504692.1:n.*279G>A
ENST00000308375.10:c.1069G>A	ENSP00000309092.6:p.Val357Ile
ENST00000308388.6:c.988G>A	ENSP00000311130.6:p.Val330Ile
ENST00000480687.5:c.988G>A	ENSP00000418565.1:p.Val330Ile
NM_013334.3:c.1069G>A	NP_037466.2:p.Val357Ile
NM_021971.2:c.988G>A	NP_068806.1:p.Val330Ile
NM_021971.4:c.988G>A MANE Select	NP_068806.2:p.Val330Ile
NM_013334.4:c.1069G>A	NP_037466.3:p.Val357Ile