Canonical Allele Identifier: CA10581617

Gene: GBA1

Linked Data

• ClinVar Variation Id: 236405
• ClinVar RCV Id: RCV000225638
• dbSNP Id: rs878853320
• MyVariant Identifiers: chr1:g.155205094A>C (hg19) ; chr1:g.155235303A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235303A>C , CM000663.2:g.155235303A>C	GRCh38
NC_000001.10:g.155205094A>C , CM000663.1:g.155205094A>C	GRCh37
NC_000001.9:g.153471718A>C	NCBI36
NG_009783.1:g.14395T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1397T>G MANE Select	ENSP00000357357.3:p.Ile466Ser
ENST00000327247.9:c.1397T>G	ENSP00000314508.5:p.Ile466Ser
ENST00000368373.7:c.1397T>G	ENSP00000357357.3:p.Ile466Ser
ENST00000427500.7:c.1250T>G	ENSP00000402577.2:p.Ile417Ser
ENST00000428024.3:c.1136T>G	ENSP00000397986.2:p.Ile379Ser
ENST00000464536.1:n.190+343T>G
ENST00000478472.1:n.757T>G
ENST00000484489.5:n.556T>G
NM_000157.3:c.1397T>G	NP_000148.2:p.Ile466Ser
NM_001005741.2:c.1397T>G	NP_001005741.1:p.Ile466Ser
NM_001005742.2:c.1397T>G	NP_001005742.1:p.Ile466Ser
NM_001171811.1:c.1136T>G	NP_001165282.1:p.Ile379Ser
NM_001171812.1:c.1250T>G	NP_001165283.1:p.Ile417Ser
XM_006711270.1:c.1397T>G	XP_006711333.1:p.Ile466Ser
XM_011509407.1:c.1397T>G	XP_011507709.1:p.Ile466Ser
NM_000157.4:c.1397T>G MANE Select	NP_000148.2:p.Ile466Ser
NM_001005741.3:c.1397T>G	NP_001005741.1:p.Ile466Ser
NM_001005742.3:c.1397T>G	NP_001005742.1:p.Ile466Ser
NM_001171811.2:c.1136T>G	NP_001165282.1:p.Ile379Ser
NM_001171812.2:c.1250T>G	NP_001165283.1:p.Ile417Ser