Canonical Allele Identifier: CA342724835

Gene: GBA1

Linked Data

• ClinVar Variation Id: 2573446
• ClinVar RCV Id: RCV003317782
• MyVariant Identifiers: chr1:g.155208427T>A (hg19) ; chr1:g.155238636T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238636T>A , CM000663.2:g.155238636T>A	GRCh38
NC_000001.10:g.155208427T>A , CM000663.1:g.155208427T>A	GRCh37
NC_000001.9:g.153475051T>A	NCBI36
NG_009783.1:g.11062A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.469A>T MANE Select	ENSP00000357357.3:p.Ile157Phe
ENST00000327247.9:c.469A>T	ENSP00000314508.5:p.Ile157Phe
ENST00000368373.7:c.469A>T	ENSP00000357357.3:p.Ile157Phe
ENST00000427500.7:c.322A>T	ENSP00000402577.2:p.Ile108Phe
ENST00000428024.3:c.208A>T	ENSP00000397986.2:p.Ile70Phe
ENST00000460156.1:n.256A>T
ENST00000473570.5:n.790A>T
ENST00000484489.5:n.339+1337A>T
ENST00000491081.5:n.74A>T
ENST00000493842.5:n.807A>T
ENST00000497670.5:n.92A>T
NM_000157.3:c.469A>T	NP_000148.2:p.Ile157Phe
NM_001005741.2:c.469A>T	NP_001005741.1:p.Ile157Phe
NM_001005742.2:c.469A>T	NP_001005742.1:p.Ile157Phe
NM_001171811.1:c.208A>T	NP_001165282.1:p.Ile70Phe
NM_001171812.1:c.322A>T	NP_001165283.1:p.Ile108Phe
XM_006711270.1:c.469A>T	XP_006711333.1:p.Ile157Phe
XM_011509407.1:c.469A>T	XP_011507709.1:p.Ile157Phe
NM_000157.4:c.469A>T MANE Select	NP_000148.2:p.Ile157Phe
NM_001005741.3:c.469A>T	NP_001005741.1:p.Ile157Phe
NM_001005742.3:c.469A>T	NP_001005742.1:p.Ile157Phe
NM_001171811.2:c.208A>T	NP_001165282.1:p.Ile70Phe
NM_001171812.2:c.322A>T	NP_001165283.1:p.Ile108Phe