Canonical Allele Identifier: CA455442491

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65432810G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65967823G>A , CM000669.2:g.65967823G>A	GRCh38
NC_000007.13:g.65432810G>A , CM000669.1:g.65432810G>A	GRCh37
NC_000007.12:g.65070245G>A	NCBI36
NG_016197.1:g.19492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1561C>T MANE Select	ENSP00000302728.4:p.Leu521=
ENST00000304895.8:c.1561C>T	ENSP00000302728.4:p.Leu521=
ENST00000421103.5:c.1123C>T	ENSP00000391390.1:p.Leu375=
ENST00000430730.5:c.*828C>T	ENSP00000411859.1:n.*828C>T
ENST00000447929.5:c.*941C>T	ENSP00000411262.1:n.*941C>T
ENST00000461622.1:n.86C>T
ENST00000462371.1:n.599C>T
ENST00000466883.5:n.1951C>T
NM_000181.3:c.1561C>T	NP_000172.2:p.Leu521=
NM_001284290.1:c.1123C>T	NP_001271219.1:p.Leu375=
NM_001293104.1:c.991C>T	NP_001280033.1:p.Leu331=
NM_001293105.1:c.904C>T	NP_001280034.1:p.Leu302=
NR_120531.1:n.1607C>T
XM_005250297.3:c.1408C>T	XP_005250354.1:p.Leu470=
XM_011516113.1:c.1060C>T	XP_011514415.1:p.Leu354=
XM_011516114.1:c.889C>T	XP_011514416.1:p.Leu297=
XR_927461.1:n.1647C>T
XM_005250297.4:c.1408C>T	XP_005250354.1:p.Leu470=
XM_011516114.2:c.889C>T	XP_011514416.1:p.Leu297=
XM_017012091.1:c.907C>T	XP_016867580.1:p.Leu303=
XM_017012092.1:c.838C>T	XP_016867581.1:p.Leu280=
XM_017012093.2:c.736C>T	XP_016867582.1:p.Leu246=
XR_001744658.2:n.1368C>T
XR_001744659.2:n.1481C>T
XR_001744660.2:n.1413C>T
XR_001744661.2:n.1328C>T
XR_927461.3:n.1566C>T
NM_000181.4:c.1561C>T MANE Select	NP_000172.2:p.Leu521=
NM_001284290.2:c.1123C>T	NP_001271219.1:p.Leu375=
NM_001293104.2:c.991C>T	NP_001280033.1:p.Leu331=
NM_001293105.2:c.904C>T	NP_001280034.1:p.Leu302=
NR_120531.2:n.1506C>T