Canonical Allele Identifier: CA342723790

Gene: GBA1

Linked Data

• MyVariant Identifiers: chr1:g.155208334G>A (hg19) ; chr1:g.155238543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155238543G>A , CM000663.2:g.155238543G>A	GRCh38
NC_000001.10:g.155208334G>A , CM000663.1:g.155208334G>A	GRCh37
NC_000001.9:g.153474958G>A	NCBI36
NG_009783.1:g.11155C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368373.8:c.562C>T MANE Select	ENSP00000357357.3:p.Leu188Phe
ENST00000327247.9:c.562C>T	ENSP00000314508.5:p.Leu188Phe
ENST00000368373.7:c.562C>T	ENSP00000357357.3:p.Leu188Phe
ENST00000427500.7:c.415C>T	ENSP00000402577.2:p.Leu139Phe
ENST00000428024.3:c.301C>T	ENSP00000397986.2:p.Leu101Phe
ENST00000460156.1:n.349C>T
ENST00000484489.5:n.339+1430C>T
ENST00000491081.5:n.167C>T
ENST00000493842.5:n.900C>T
ENST00000497670.5:n.185C>T
NM_000157.3:c.562C>T	NP_000148.2:p.Leu188Phe
NM_001005741.2:c.562C>T	NP_001005741.1:p.Leu188Phe
NM_001005742.2:c.562C>T	NP_001005742.1:p.Leu188Phe
NM_001171811.1:c.301C>T	NP_001165282.1:p.Leu101Phe
NM_001171812.1:c.415C>T	NP_001165283.1:p.Leu139Phe
XM_006711270.1:c.562C>T	XP_006711333.1:p.Leu188Phe
XM_011509407.1:c.562C>T	XP_011507709.1:p.Leu188Phe
NM_000157.4:c.562C>T MANE Select	NP_000148.2:p.Leu188Phe
NM_001005741.3:c.562C>T	NP_001005741.1:p.Leu188Phe
NM_001005742.3:c.562C>T	NP_001005742.1:p.Leu188Phe
NM_001171811.2:c.301C>T	NP_001165282.1:p.Leu101Phe
NM_001171812.2:c.415C>T	NP_001165283.1:p.Leu139Phe