Canonical Allele Identifier: CA342723778

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155208333A>C (hg19) ; chr1:g.155238542A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238542A>C , CM000663.2:g.155238542A>C	GRCh38
NC_000001.10:g.155208333A>C , CM000663.1:g.155208333A>C	GRCh37
NC_000001.9:g.153474957A>C	NCBI36
NG_009783.1:g.11156T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.563T>G MANE Select	ENSP00000357357.3:p.Leu188Arg
ENST00000327247.9:c.563T>G	ENSP00000314508.5:p.Leu188Arg
ENST00000368373.7:c.563T>G	ENSP00000357357.3:p.Leu188Arg
ENST00000427500.7:c.416T>G	ENSP00000402577.2:p.Leu139Arg
ENST00000428024.3:c.302T>G	ENSP00000397986.2:p.Leu101Arg
ENST00000460156.1:n.350T>G
ENST00000484489.5:n.339+1431T>G
ENST00000491081.5:n.168T>G
ENST00000493842.5:n.901T>G
ENST00000497670.5:n.186T>G
NM_000157.3:c.563T>G	NP_000148.2:p.Leu188Arg
NM_001005741.2:c.563T>G	NP_001005741.1:p.Leu188Arg
NM_001005742.2:c.563T>G	NP_001005742.1:p.Leu188Arg
NM_001171811.1:c.302T>G	NP_001165282.1:p.Leu101Arg
NM_001171812.1:c.416T>G	NP_001165283.1:p.Leu139Arg
XM_006711270.1:c.563T>G	XP_006711333.1:p.Leu188Arg
XM_011509407.1:c.563T>G	XP_011507709.1:p.Leu188Arg
NM_000157.4:c.563T>G MANE Select	NP_000148.2:p.Leu188Arg
NM_001005741.3:c.563T>G	NP_001005741.1:p.Leu188Arg
NM_001005742.3:c.563T>G	NP_001005742.1:p.Leu188Arg
NM_001171811.2:c.302T>G	NP_001165282.1:p.Leu101Arg
NM_001171812.2:c.416T>G	NP_001165283.1:p.Leu139Arg