Canonical Allele Identifier: CA342711553

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155205044G>C (hg19) ; chr1:g.155235253G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235253G>C , CM000663.2:g.155235253G>C	GRCh38
NC_000001.10:g.155205044G>C , CM000663.1:g.155205044G>C	GRCh37
NC_000001.9:g.153471668G>C	NCBI36
NG_009783.1:g.14445C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1447C>G MANE Select	ENSP00000357357.3:p.Leu483Val
ENST00000327247.9:c.1447C>G	ENSP00000314508.5:p.Leu483Val
ENST00000368373.7:c.1447C>G	ENSP00000357357.3:p.Leu483Val
ENST00000427500.7:c.1300C>G	ENSP00000402577.2:p.Leu434Val
ENST00000428024.3:c.1186C>G	ENSP00000397986.2:p.Leu396Val
ENST00000464536.1:n.190+393C>G
ENST00000478472.1:n.807C>G
ENST00000484489.5:n.606C>G
NM_000157.3:c.1447C>G	NP_000148.2:p.Leu483Val
NM_001005741.2:c.1447C>G	NP_001005741.1:p.Leu483Val
NM_001005742.2:c.1447C>G	NP_001005742.1:p.Leu483Val
NM_001171811.1:c.1186C>G	NP_001165282.1:p.Leu396Val
NM_001171812.1:c.1300C>G	NP_001165283.1:p.Leu434Val
XM_006711270.1:c.1447C>G	XP_006711333.1:p.Leu483Val
XM_011509407.1:c.1447C>G	XP_011507709.1:p.Leu483Val
NM_000157.4:c.1447C>G MANE Select	NP_000148.2:p.Leu483Val
NM_001005741.3:c.1447C>G	NP_001005741.1:p.Leu483Val
NM_001005742.3:c.1447C>G	NP_001005742.1:p.Leu483Val
NM_001171811.2:c.1186C>G	NP_001165282.1:p.Leu396Val
NM_001171812.2:c.1300C>G	NP_001165283.1:p.Leu434Val