Canonical Allele Identifier: CA16044027

Gene: GBA1

Linked Data

• ClinVar Variation Id: 375274
• ClinVar RCV Id: RCV000416353
• dbSNP Id: rs1057519020
• MyVariant Identifiers: chr1:g.155207296G>C (hg19) ; chr1:g.155237505G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155237505G>C , CM000663.2:g.155237505G>C	GRCh38
NC_000001.10:g.155207296G>C , CM000663.1:g.155207296G>C	GRCh37
NC_000001.9:g.153473920G>C	NCBI36
NG_009783.1:g.12193C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.835C>G MANE Select	ENSP00000357357.3:p.Leu279Val
ENST00000327247.9:c.835C>G	ENSP00000314508.5:p.Leu279Val
ENST00000368373.7:c.835C>G	ENSP00000357357.3:p.Leu279Val
ENST00000427500.7:c.688C>G	ENSP00000402577.2:p.Leu230Val
ENST00000428024.3:c.574C>G	ENSP00000397986.2:p.Leu192Val
ENST00000484489.5:n.340-1217C>G
ENST00000491081.5:n.440C>G
ENST00000497670.5:n.458C>G
NM_000157.3:c.835C>G	NP_000148.2:p.Leu279Val
NM_001005741.2:c.835C>G	NP_001005741.1:p.Leu279Val
NM_001005742.2:c.835C>G	NP_001005742.1:p.Leu279Val
NM_001171811.1:c.574C>G	NP_001165282.1:p.Leu192Val
NM_001171812.1:c.688C>G	NP_001165283.1:p.Leu230Val
XM_006711270.1:c.835C>G	XP_006711333.1:p.Leu279Val
XM_011509407.1:c.835C>G	XP_011507709.1:p.Leu279Val
NM_000157.4:c.835C>G MANE Select	NP_000148.2:p.Leu279Val
NM_001005741.3:c.835C>G	NP_001005741.1:p.Leu279Val
NM_001005742.3:c.835C>G	NP_001005742.1:p.Leu279Val
NM_001171811.2:c.574C>G	NP_001165282.1:p.Leu192Val
NM_001171812.2:c.688C>G	NP_001165283.1:p.Leu230Val