Canonical Allele Identifier: CA367637677

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426039C>T (hg19) ; chr7:g.65961052C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961052C>T , CM000669.2:g.65961052C>T	GRCh38
NC_000007.13:g.65426039C>T , CM000669.1:g.65426039C>T	GRCh37
NC_000007.12:g.65063474C>T	NCBI36
NG_016197.1:g.26263G>A
NG_051954.1:g.92954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1801G>A MANE Select	ENSP00000302728.4:p.Val601Met
ENST00000304895.8:c.1801G>A	ENSP00000302728.4:p.Val601Met
ENST00000421103.5:c.1363G>A	ENSP00000391390.1:p.Val455Met
ENST00000430730.5:c.*1068G>A	ENSP00000411859.1:n.*1068G>A
ENST00000447929.5:c.*1181G>A	ENSP00000411262.1:n.*1181G>A
ENST00000466883.5:n.2191G>A
NM_000181.3:c.1801G>A	NP_000172.2:p.Val601Met
NM_001284290.1:c.1363G>A	NP_001271219.1:p.Val455Met
NM_001293104.1:c.1231G>A	NP_001280033.1:p.Val411Met
NM_001293105.1:c.1144G>A	NP_001280034.1:p.Val382Met
NR_120531.1:n.1847G>A
XM_005250297.3:c.1648G>A	XP_005250354.1:p.Val550Met
XM_011516113.1:c.1300G>A	XP_011514415.1:p.Val434Met
XM_011516114.1:c.1129G>A	XP_011514416.1:p.Val377Met
XM_005250297.4:c.1648G>A	XP_005250354.1:p.Val550Met
XM_011516114.2:c.1129G>A	XP_011514416.1:p.Val377Met
XM_017012091.1:c.1147G>A	XP_016867580.1:p.Val383Met
XM_017012092.1:c.1078G>A	XP_016867581.1:p.Val360Met
XM_017012093.2:c.976G>A	XP_016867582.1:p.Val326Met
XR_001744658.2:n.1608G>A
XR_001744659.2:n.1721G>A
XR_001744660.2:n.1653G>A
XR_001744661.2:n.1568G>A
XR_927461.3:n.1806G>A
NM_000181.4:c.1801G>A MANE Select	NP_000172.2:p.Val601Met
NM_001284290.2:c.1363G>A	NP_001271219.1:p.Val455Met
NM_001293104.2:c.1231G>A	NP_001280033.1:p.Val411Met
NM_001293105.2:c.1144G>A	NP_001280034.1:p.Val382Met
NR_120531.2:n.1746G>A