Canonical Allele Identifier: CA1141520

Gene: GBA1

Linked Data

• ClinVar Variation Id: 256872
• ClinVar RCV Id: RCV000241921 ; RCV002500869 ; RCV003409374
• dbSNP Id: rs149257166
• ExAC: 1:155205018 G / A
• gnomAD v2: 1-155205018-G-A
• gnomAD v3: 1-155235227-G-A
• gnomAD v4: 1-155235227-G-A
• MyVariant Identifiers: chr1:g.155205018G>A (hg19) ; chr1:g.155235227G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155235227G>A , CM000663.2:g.155235227G>A	GRCh38
NC_000001.10:g.155205018G>A , CM000663.1:g.155205018G>A	GRCh37
NC_000001.9:g.153471642G>A	NCBI36
NG_009783.1:g.14471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368373.8:c.1473C>T MANE Select	ENSP00000357357.3:p.Pro491=
ENST00000327247.9:c.1473C>T	ENSP00000314508.5:p.Pro491=
ENST00000368373.7:c.1473C>T	ENSP00000357357.3:p.Pro491=
ENST00000427500.7:c.1326C>T	ENSP00000402577.2:p.Pro442=
ENST00000428024.3:c.1212C>T	ENSP00000397986.2:p.Pro404=
ENST00000464536.1:n.191-406C>T
ENST00000478472.1:n.833C>T
ENST00000484489.5:n.632C>T
NM_000157.3:c.1473C>T	NP_000148.2:p.Pro491=
NM_001005741.2:c.1473C>T	NP_001005741.1:p.Pro491=
NM_001005742.2:c.1473C>T	NP_001005742.1:p.Pro491=
NM_001171811.1:c.1212C>T	NP_001165282.1:p.Pro404=
NM_001171812.1:c.1326C>T	NP_001165283.1:p.Pro442=
XM_006711270.1:c.1473C>T	XP_006711333.1:p.Pro491=
XM_011509407.1:c.1473C>T	XP_011507709.1:p.Pro491=
NM_000157.4:c.1473C>T MANE Select	NP_000148.2:p.Pro491=
NM_001005741.3:c.1473C>T	NP_001005741.1:p.Pro491=
NM_001005742.3:c.1473C>T	NP_001005742.1:p.Pro491=
NM_001171811.2:c.1212C>T	NP_001165282.1:p.Pro404=
NM_001171812.2:c.1326C>T	NP_001165283.1:p.Pro442=