Canonical Allele Identifier: CA367637662

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426036G>C (hg19) ; chr7:g.65961049G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961049G>C , CM000669.2:g.65961049G>C	GRCh38
NC_000007.13:g.65426036G>C , CM000669.1:g.65426036G>C	GRCh37
NC_000007.12:g.65063471G>C	NCBI36
NG_016197.1:g.26266C>G
NG_051954.1:g.92951G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1804C>G MANE Select	ENSP00000302728.4:p.Leu602Val
ENST00000304895.8:c.1804C>G	ENSP00000302728.4:p.Leu602Val
ENST00000421103.5:c.1366C>G	ENSP00000391390.1:p.Leu456Val
ENST00000430730.5:c.*1071C>G	ENSP00000411859.1:n.*1071C>G
ENST00000447929.5:c.*1184C>G	ENSP00000411262.1:n.*1184C>G
ENST00000466883.5:n.2194C>G
NM_000181.3:c.1804C>G	NP_000172.2:p.Leu602Val
NM_001284290.1:c.1366C>G	NP_001271219.1:p.Leu456Val
NM_001293104.1:c.1234C>G	NP_001280033.1:p.Leu412Val
NM_001293105.1:c.1147C>G	NP_001280034.1:p.Leu383Val
NR_120531.1:n.1850C>G
XM_005250297.3:c.1651C>G	XP_005250354.1:p.Leu551Val
XM_011516113.1:c.1303C>G	XP_011514415.1:p.Leu435Val
XM_011516114.1:c.1132C>G	XP_011514416.1:p.Leu378Val
XM_005250297.4:c.1651C>G	XP_005250354.1:p.Leu551Val
XM_011516114.2:c.1132C>G	XP_011514416.1:p.Leu378Val
XM_017012091.1:c.1150C>G	XP_016867580.1:p.Leu384Val
XM_017012092.1:c.1081C>G	XP_016867581.1:p.Leu361Val
XM_017012093.2:c.979C>G	XP_016867582.1:p.Leu327Val
XR_001744658.2:n.1611C>G
XR_001744659.2:n.1724C>G
XR_001744660.2:n.1656C>G
XR_001744661.2:n.1571C>G
XR_927461.3:n.1809C>G
NM_000181.4:c.1804C>G MANE Select	NP_000172.2:p.Leu602Val
NM_001284290.2:c.1366C>G	NP_001271219.1:p.Leu456Val
NM_001293104.2:c.1234C>G	NP_001280033.1:p.Leu412Val
NM_001293105.2:c.1147C>G	NP_001280034.1:p.Leu383Val
NR_120531.2:n.1749C>G