Canonical Allele Identifier: CA116767

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4290
• ClinVar RCV Id: RCV000004517 ; RCV000004515 ; RCV000004516 ; RCV000079336 ; RCV000414782 ; RCV000396221 ; RCV000515439 ; RCV001195689 ; RCV001004117 ; RCV001270528 ; RCV001197918 ; RCV002247244 ; RCV004555830 ; RCV003982824 ; RCV004018556
• dbSNP Id: rs76763715
• ExAC: 1:155205634 T / C
• gnomAD v2: 1-155205634-T-C
• gnomAD v3: 1-155235843-T-C
• gnomAD v4: 1-155235843-T-C
• MyVariant Identifiers: chr1:g.155205634T>C (hg19) ; chr1:g.155235843T>C (hg38)
• PubMed: PMID:1348297 ; PMID:1897529 ; PMID:1899336 ; PMID:1971142 ; PMID:2117855 ; PMID:2309702 ; PMID:2569551 ; PMID:3353383 ; PMID:7789963 ; PMID:8294487 ; PMID:8450045 ; PMID:8487270 ; PMID:8516282 ; PMID:9554746 ; PMID:10796875 ; PMID:15146461 ; PMID:18332251 ; PMID:18338393 ; PMID:18434642 ; PMID:18979180 ; PMID:18987351 ; PMID:19286695 ; PMID:19846850 ; PMID:20662857 ; PMID:20947659 ; PMID:22192918 ; PMID:22968580 ; PMID:23676350 ; PMID:23891399 ; PMID:25249066 ; PMID:25333069 ; PMID:25653295

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235843T>C , CM000663.2:g.155235843T>C	GRCh38
NC_000001.10:g.155205634T>C , CM000663.1:g.155205634T>C	GRCh37
NC_000001.9:g.153472258T>C	NCBI36
NG_009783.1:g.13855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1226A>G MANE Select	ENSP00000357357.3:p.Asn409Ser
ENST00000327247.9:c.1226A>G	ENSP00000314508.5:p.Asn409Ser
ENST00000368373.7:c.1226A>G	ENSP00000357357.3:p.Asn409Ser
ENST00000427500.7:c.1079A>G	ENSP00000402577.2:p.Asn360Ser
ENST00000428024.3:c.965A>G	ENSP00000397986.2:p.Asn322Ser
ENST00000478472.1:n.217A>G
ENST00000484489.5:n.385A>G
NM_000157.3:c.1226A>G	NP_000148.2:p.Asn409Ser
NM_001005741.2:c.1226A>G	NP_001005741.1:p.Asn409Ser
NM_001005742.2:c.1226A>G	NP_001005742.1:p.Asn409Ser
NM_001171811.1:c.965A>G	NP_001165282.1:p.Asn322Ser
NM_001171812.1:c.1079A>G	NP_001165283.1:p.Asn360Ser
XM_006711270.1:c.1226A>G	XP_006711333.1:p.Asn409Ser
XM_011509407.1:c.1226A>G	XP_011507709.1:p.Asn409Ser
NM_000157.4:c.1226A>G MANE Select	NP_000148.2:p.Asn409Ser
NM_001005741.3:c.1226A>G	NP_001005741.1:p.Asn409Ser
NM_001005742.3:c.1226A>G	NP_001005742.1:p.Asn409Ser
NM_001171811.2:c.965A>G	NP_001165282.1:p.Asn322Ser
NM_001171812.2:c.1079A>G	NP_001165283.1:p.Asn360Ser