Canonical Allele Identifier: CA16044121

Gene: GBA1

Linked Data

• ClinVar Variation Id: 209103
• ClinVar RCV Id: RCV000416583
• dbSNP Id: rs1057519356
• MyVariant Identifiers: chr1:g.155205051C>G (hg19) ; chr1:g.155235260C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235260C>G , CM000663.2:g.155235260C>G	GRCh38
NC_000001.10:g.155205051C>G , CM000663.1:g.155205051C>G	GRCh37
NC_000001.9:g.153471675C>G	NCBI36
NG_009783.1:g.14438G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1440G>C MANE Select	ENSP00000357357.3:p.Lys480Asn
ENST00000327247.9:c.1440G>C	ENSP00000314508.5:p.Lys480Asn
ENST00000368373.7:c.1440G>C	ENSP00000357357.3:p.Lys480Asn
ENST00000427500.7:c.1293G>C	ENSP00000402577.2:p.Lys431Asn
ENST00000428024.3:c.1179G>C	ENSP00000397986.2:p.Lys393Asn
ENST00000464536.1:n.190+386G>C
ENST00000478472.1:n.800G>C
ENST00000484489.5:n.599G>C
NM_000157.3:c.1440G>C	NP_000148.2:p.Lys480Asn
NM_001005741.2:c.1440G>C	NP_001005741.1:p.Lys480Asn
NM_001005742.2:c.1440G>C	NP_001005742.1:p.Lys480Asn
NM_001171811.1:c.1179G>C	NP_001165282.1:p.Lys393Asn
NM_001171812.1:c.1293G>C	NP_001165283.1:p.Lys431Asn
XM_006711270.1:c.1440G>C	XP_006711333.1:p.Lys480Asn
XM_011509407.1:c.1440G>C	XP_011507709.1:p.Lys480Asn
NM_000157.4:c.1440G>C MANE Select	NP_000148.2:p.Lys480Asn
NM_001005741.3:c.1440G>C	NP_001005741.1:p.Lys480Asn
NM_001005742.3:c.1440G>C	NP_001005742.1:p.Lys480Asn
NM_001171811.2:c.1179G>C	NP_001165282.1:p.Lys393Asn
NM_001171812.2:c.1293G>C	NP_001165283.1:p.Lys431Asn