Canonical Allele Identifier: CA116765

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4288
• ClinVar RCV Id: RCV000004510 ; RCV000004512 ; RCV000004509 ; RCV000004511 ; RCV000004513 ; RCV000020150 ; RCV000413257 ; RCV000626625 ; RCV001004112 ; RCV001197164 ; RCV002476924 ; RCV004018555 ; RCV003398445 ; RCV003987311
• dbSNP Id: rs421016
• ExAC: 1:155205043 A / G
• gnomAD v2: 1-155205043-A-G
• gnomAD v3: 1-155235252-A-G
• gnomAD v4: 1-155235252-A-G
• MyVariant Identifiers: chr1:g.155205043A>G (hg19) ; chr1:g.155235252A>G (hg38)
• PubMed: PMID:1899336 ; PMID:1972019 ; PMID:2309702 ; PMID:2349952 ; PMID:2378352 ; PMID:2464926 ; PMID:2569551 ; PMID:2880291 ; PMID:10796875 ; PMID:14757438 ; PMID:15605411 ; PMID:17620502 ; PMID:18022370 ; PMID:18332251 ; PMID:18541817 ; PMID:19286695 ; PMID:20301446 ; PMID:22713811 ; PMID:23430543 ; PMID:23448517 ; PMID:23719189 ; PMID:24022302 ; PMID:25333069

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235252A>G , CM000663.2:g.155235252A>G	GRCh38
NC_000001.10:g.155205043A>G , CM000663.1:g.155205043A>G	GRCh37
NC_000001.9:g.153471667A>G	NCBI36
NG_009783.1:g.14446T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1448T>C MANE Select	ENSP00000357357.3:p.Leu483Pro
ENST00000327247.9:c.1448T>C	ENSP00000314508.5:p.Leu483Pro
ENST00000368373.7:c.1448T>C	ENSP00000357357.3:p.Leu483Pro
ENST00000427500.7:c.1301T>C	ENSP00000402577.2:p.Leu434Pro
ENST00000428024.3:c.1187T>C	ENSP00000397986.2:p.Leu396Pro
ENST00000464536.1:n.190+394T>C
ENST00000478472.1:n.808T>C
ENST00000484489.5:n.607T>C
NM_000157.3:c.1448T>C	NP_000148.2:p.Leu483Pro
NM_001005741.2:c.1448T>C	NP_001005741.1:p.Leu483Pro
NM_001005742.2:c.1448T>C	NP_001005742.1:p.Leu483Pro
NM_001171811.1:c.1187T>C	NP_001165282.1:p.Leu396Pro
NM_001171812.1:c.1301T>C	NP_001165283.1:p.Leu434Pro
XM_006711270.1:c.1448T>C	XP_006711333.1:p.Leu483Pro
XM_011509407.1:c.1448T>C	XP_011507709.1:p.Leu483Pro
NM_000157.4:c.1448T>C MANE Select	NP_000148.2:p.Leu483Pro
NM_001005741.3:c.1448T>C	NP_001005741.1:p.Leu483Pro
NM_001005742.3:c.1448T>C	NP_001005742.1:p.Leu483Pro
NM_001171811.2:c.1187T>C	NP_001165282.1:p.Leu396Pro
NM_001171812.2:c.1301T>C	NP_001165283.1:p.Leu434Pro