Canonical Allele Identifier: CA367637321

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65425978A>G (hg19) ; chr7:g.65960991A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65960991A>G , CM000669.2:g.65960991A>G	GRCh38
NC_000007.13:g.65425978A>G , CM000669.1:g.65425978A>G	GRCh37
NC_000007.12:g.65063413A>G	NCBI36
NG_016197.1:g.26324T>C
NG_051954.1:g.92893A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1862T>C MANE Select	ENSP00000302728.4:p.Leu621Pro
ENST00000304895.8:c.1862T>C	ENSP00000302728.4:p.Leu621Pro
ENST00000421103.5:c.1424T>C	ENSP00000391390.1:p.Leu475Pro
ENST00000430730.5:c.*1129T>C	ENSP00000411859.1:n.*1129T>C
ENST00000447929.5:c.*1242T>C	ENSP00000411262.1:n.*1242T>C
ENST00000466883.5:n.2252T>C
NM_000181.3:c.1862T>C	NP_000172.2:p.Leu621Pro
NM_001284290.1:c.1424T>C	NP_001271219.1:p.Leu475Pro
NM_001293104.1:c.1292T>C	NP_001280033.1:p.Leu431Pro
NM_001293105.1:c.1205T>C	NP_001280034.1:p.Leu402Pro
NR_120531.1:n.1908T>C
XM_005250297.3:c.1709T>C	XP_005250354.1:p.Leu570Pro
XM_011516113.1:c.1361T>C	XP_011514415.1:p.Leu454Pro
XM_011516114.1:c.1190T>C	XP_011514416.1:p.Leu397Pro
XM_005250297.4:c.1709T>C	XP_005250354.1:p.Leu570Pro
XM_011516114.2:c.1190T>C	XP_011514416.1:p.Leu397Pro
XM_017012091.1:c.1208T>C	XP_016867580.1:p.Leu403Pro
XM_017012092.1:c.1139T>C	XP_016867581.1:p.Leu380Pro
XM_017012093.2:c.1037T>C	XP_016867582.1:p.Leu346Pro
XR_001744658.2:n.1669T>C
XR_001744659.2:n.1782T>C
XR_001744660.2:n.1714T>C
XR_001744661.2:n.1629T>C
XR_927461.3:n.1867T>C
NM_000181.4:c.1862T>C MANE Select	NP_000172.2:p.Leu621Pro
NM_001284290.2:c.1424T>C	NP_001271219.1:p.Leu475Pro
NM_001293104.2:c.1292T>C	NP_001280033.1:p.Leu431Pro
NM_001293105.2:c.1205T>C	NP_001280034.1:p.Leu402Pro
NR_120531.2:n.1807T>C