Canonical Allele Identifier: CA342724779

Gene: GBA1

Linked Data

• ClinVar Variation Id: 2205183
• ClinVar RCV Id: RCV002648300
• dbSNP Id: rs147411159
• gnomAD v2: 1-155208422-G-C
• gnomAD v3: 1-155238631-G-C
• gnomAD v4: 1-155238631-G-C
• MyVariant Identifiers: chr1:g.155208422G>C (hg19) ; chr1:g.155238631G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238631G>C , CM000663.2:g.155238631G>C	GRCh38
NC_000001.10:g.155208422G>C , CM000663.1:g.155208422G>C	GRCh37
NC_000001.9:g.153475046G>C	NCBI36
NG_009783.1:g.11067C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.474C>G MANE Select	ENSP00000357357.3:p.Ile158Met
ENST00000327247.9:c.474C>G	ENSP00000314508.5:p.Ile158Met
ENST00000368373.7:c.474C>G	ENSP00000357357.3:p.Ile158Met
ENST00000427500.7:c.327C>G	ENSP00000402577.2:p.Ile109Met
ENST00000428024.3:c.213C>G	ENSP00000397986.2:p.Ile71Met
ENST00000460156.1:n.261C>G
ENST00000473570.5:n.795C>G
ENST00000484489.5:n.339+1342C>G
ENST00000491081.5:n.79C>G
ENST00000493842.5:n.812C>G
ENST00000497670.5:n.97C>G
NM_000157.3:c.474C>G	NP_000148.2:p.Ile158Met
NM_001005741.2:c.474C>G	NP_001005741.1:p.Ile158Met
NM_001005742.2:c.474C>G	NP_001005742.1:p.Ile158Met
NM_001171811.1:c.213C>G	NP_001165282.1:p.Ile71Met
NM_001171812.1:c.327C>G	NP_001165283.1:p.Ile109Met
XM_006711270.1:c.474C>G	XP_006711333.1:p.Ile158Met
XM_011509407.1:c.474C>G	XP_011507709.1:p.Ile158Met
NM_000157.4:c.474C>G MANE Select	NP_000148.2:p.Ile158Met
NM_001005741.3:c.474C>G	NP_001005741.1:p.Ile158Met
NM_001005742.3:c.474C>G	NP_001005742.1:p.Ile158Met
NM_001171811.2:c.213C>G	NP_001165282.1:p.Ile71Met
NM_001171812.2:c.327C>G	NP_001165283.1:p.Ile109Met