Canonical Allele Identifier: CA367636955

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425895G>C (hg19) ; chr7:g.65960908G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960908G>C , CM000669.2:g.65960908G>C	GRCh38
NC_000007.13:g.65425895G>C , CM000669.1:g.65425895G>C	GRCh37
NC_000007.12:g.65063330G>C	NCBI36
NG_016197.1:g.26407C>G
NG_051954.1:g.92810G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1945C>G MANE Select	ENSP00000302728.4:p.Leu649Val
ENST00000304895.8:c.1945C>G	ENSP00000302728.4:p.Leu649Val
ENST00000421103.5:c.1507C>G	ENSP00000391390.1:p.Leu503Val
ENST00000430730.5:c.*1212C>G	ENSP00000411859.1:n.*1212C>G
ENST00000447929.5:c.*1325C>G	ENSP00000411262.1:n.*1325C>G
ENST00000466883.5:n.2335C>G
NM_000181.3:c.1945C>G	NP_000172.2:p.Leu649Val
NM_001284290.1:c.1507C>G	NP_001271219.1:p.Leu503Val
NM_001293104.1:c.1375C>G	NP_001280033.1:p.Leu459Val
NM_001293105.1:c.1288C>G	NP_001280034.1:p.Leu430Val
NR_120531.1:n.1991C>G
XM_005250297.3:c.1792C>G	XP_005250354.1:p.Leu598Val
XM_011516113.1:c.1444C>G	XP_011514415.1:p.Leu482Val
XM_011516114.1:c.1273C>G	XP_011514416.1:p.Leu425Val
XM_005250297.4:c.1792C>G	XP_005250354.1:p.Leu598Val
XM_011516114.2:c.1273C>G	XP_011514416.1:p.Leu425Val
XM_017012091.1:c.1291C>G	XP_016867580.1:p.Leu431Val
XM_017012092.1:c.1222C>G	XP_016867581.1:p.Leu408Val
XM_017012093.2:c.1120C>G	XP_016867582.1:p.Leu374Val
XR_001744658.2:n.1752C>G
XR_001744659.2:n.1865C>G
XR_001744660.2:n.1797C>G
XR_001744661.2:n.1712C>G
XR_927461.3:n.1950C>G
NM_000181.4:c.1945C>G MANE Select	NP_000172.2:p.Leu649Val
NM_001284290.2:c.1507C>G	NP_001271219.1:p.Leu503Val
NM_001293104.2:c.1375C>G	NP_001280033.1:p.Leu459Val
NM_001293105.2:c.1288C>G	NP_001280034.1:p.Leu430Val
NR_120531.2:n.1890C>G