Canonical Allele Identifier: CA253055

Gene: GBA1

Linked Data

• ClinVar Variation Id: 4289
• ClinVar RCV Id: RCV000004514
• dbSNP Id: rs121908295
• MyVariant Identifiers: chr1:g.155205499G>C (hg19) ; chr1:g.155235708G>C (hg38)
• PubMed: PMID:2464926 ; PMID:18022370

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235708G>C , CM000663.2:g.155235708G>C	GRCh38
NC_000001.10:g.155205499G>C , CM000663.1:g.155205499G>C	GRCh37
NC_000001.9:g.153472123G>C	NCBI36
NG_009783.1:g.13990C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1361C>G MANE Select	ENSP00000357357.3:p.Pro454Arg
ENST00000327247.9:c.1361C>G	ENSP00000314508.5:p.Pro454Arg
ENST00000368373.7:c.1361C>G	ENSP00000357357.3:p.Pro454Arg
ENST00000427500.7:c.1214C>G	ENSP00000402577.2:p.Pro405Arg
ENST00000428024.3:c.1100C>G	ENSP00000397986.2:p.Pro367Arg
ENST00000464536.1:n.128C>G
ENST00000478472.1:n.352C>G
ENST00000484489.5:n.520C>G
NM_000157.3:c.1361C>G	NP_000148.2:p.Pro454Arg
NM_001005741.2:c.1361C>G	NP_001005741.1:p.Pro454Arg
NM_001005742.2:c.1361C>G	NP_001005742.1:p.Pro454Arg
NM_001171811.1:c.1100C>G	NP_001165282.1:p.Pro367Arg
NM_001171812.1:c.1214C>G	NP_001165283.1:p.Pro405Arg
XM_006711270.1:c.1361C>G	XP_006711333.1:p.Pro454Arg
XM_011509407.1:c.1361C>G	XP_011507709.1:p.Pro454Arg
NM_000157.4:c.1361C>G MANE Select	NP_000148.2:p.Pro454Arg
NM_001005741.3:c.1361C>G	NP_001005741.1:p.Pro454Arg
NM_001005742.3:c.1361C>G	NP_001005742.1:p.Pro454Arg
NM_001171811.2:c.1100C>G	NP_001165282.1:p.Pro367Arg
NM_001171812.2:c.1214C>G	NP_001165283.1:p.Pro405Arg