Canonical Allele Identifier: CA342722244

Gene: GBA1

Linked Data

• ClinVar Variation Id: 593191
• ClinVar RCV Id: RCV000728161
• dbSNP Id: rs1557904860
• MyVariant Identifiers: chr1:g.155208017C>A (hg19) ; chr1:g.155238226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238226C>A , CM000663.2:g.155238226C>A	GRCh38
NC_000001.10:g.155208017C>A , CM000663.1:g.155208017C>A	GRCh37
NC_000001.9:g.153474641C>A	NCBI36
NG_009783.1:g.11472G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.669G>T MANE Select	ENSP00000357357.3:p.Trp223Cys
ENST00000327247.9:c.669G>T	ENSP00000314508.5:p.Trp223Cys
ENST00000368373.7:c.669G>T	ENSP00000357357.3:p.Trp223Cys
ENST00000427500.7:c.522G>T	ENSP00000402577.2:p.Trp174Cys
ENST00000428024.3:c.408G>T	ENSP00000397986.2:p.Trp136Cys
ENST00000460156.1:n.456G>T
ENST00000484489.5:n.339+1747G>T
ENST00000491081.5:n.274G>T
ENST00000493842.5:n.1007G>T
ENST00000497670.5:n.292G>T
NM_000157.3:c.669G>T	NP_000148.2:p.Trp223Cys
NM_001005741.2:c.669G>T	NP_001005741.1:p.Trp223Cys
NM_001005742.2:c.669G>T	NP_001005742.1:p.Trp223Cys
NM_001171811.1:c.408G>T	NP_001165282.1:p.Trp136Cys
NM_001171812.1:c.522G>T	NP_001165283.1:p.Trp174Cys
XM_006711270.1:c.669G>T	XP_006711333.1:p.Trp223Cys
XM_011509407.1:c.669G>T	XP_011507709.1:p.Trp223Cys
NM_000157.4:c.669G>T MANE Select	NP_000148.2:p.Trp223Cys
NM_001005741.3:c.669G>T	NP_001005741.1:p.Trp223Cys
NM_001005742.3:c.669G>T	NP_001005742.1:p.Trp223Cys
NM_001171811.2:c.408G>T	NP_001165282.1:p.Trp136Cys
NM_001171812.2:c.522G>T	NP_001165283.1:p.Trp174Cys