Canonical Allele Identifier: CA367637328

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425979G>T (hg19) ; chr7:g.65960992G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960992G>T , CM000669.2:g.65960992G>T	GRCh38
NC_000007.13:g.65425979G>T , CM000669.1:g.65425979G>T	GRCh37
NC_000007.12:g.65063414G>T	NCBI36
NG_016197.1:g.26323C>A
NG_051954.1:g.92894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1861C>A MANE Select	ENSP00000302728.4:p.Leu621Ile
ENST00000304895.8:c.1861C>A	ENSP00000302728.4:p.Leu621Ile
ENST00000421103.5:c.1423C>A	ENSP00000391390.1:p.Leu475Ile
ENST00000430730.5:c.*1128C>A	ENSP00000411859.1:n.*1128C>A
ENST00000447929.5:c.*1241C>A	ENSP00000411262.1:n.*1241C>A
ENST00000466883.5:n.2251C>A
NM_000181.3:c.1861C>A	NP_000172.2:p.Leu621Ile
NM_001284290.1:c.1423C>A	NP_001271219.1:p.Leu475Ile
NM_001293104.1:c.1291C>A	NP_001280033.1:p.Leu431Ile
NM_001293105.1:c.1204C>A	NP_001280034.1:p.Leu402Ile
NR_120531.1:n.1907C>A
XM_005250297.3:c.1708C>A	XP_005250354.1:p.Leu570Ile
XM_011516113.1:c.1360C>A	XP_011514415.1:p.Leu454Ile
XM_011516114.1:c.1189C>A	XP_011514416.1:p.Leu397Ile
XM_005250297.4:c.1708C>A	XP_005250354.1:p.Leu570Ile
XM_011516114.2:c.1189C>A	XP_011514416.1:p.Leu397Ile
XM_017012091.1:c.1207C>A	XP_016867580.1:p.Leu403Ile
XM_017012092.1:c.1138C>A	XP_016867581.1:p.Leu380Ile
XM_017012093.2:c.1036C>A	XP_016867582.1:p.Leu346Ile
XR_001744658.2:n.1668C>A
XR_001744659.2:n.1781C>A
XR_001744660.2:n.1713C>A
XR_001744661.2:n.1628C>A
XR_927461.3:n.1866C>A
NM_000181.4:c.1861C>A MANE Select	NP_000172.2:p.Leu621Ile
NM_001284290.2:c.1423C>A	NP_001271219.1:p.Leu475Ile
NM_001293104.2:c.1291C>A	NP_001280033.1:p.Leu431Ile
NM_001293105.2:c.1204C>A	NP_001280034.1:p.Leu402Ile
NR_120531.2:n.1806C>A