Canonical Allele Identifier: CA367637659

Gene: GUSB

Linked Data

• MyVariant Identifiers: chr7:g.65426035A>G (hg19) ; chr7:g.65961048A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961048A>G , CM000669.2:g.65961048A>G	GRCh38
NC_000007.13:g.65426035A>G , CM000669.1:g.65426035A>G	GRCh37
NC_000007.12:g.65063470A>G	NCBI36
NG_016197.1:g.26267T>C
NG_051954.1:g.92950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1805T>C MANE Select	ENSP00000302728.4:p.Leu602Pro
ENST00000304895.8:c.1805T>C	ENSP00000302728.4:p.Leu602Pro
ENST00000421103.5:c.1367T>C	ENSP00000391390.1:p.Leu456Pro
ENST00000430730.5:c.*1072T>C	ENSP00000411859.1:n.*1072T>C
ENST00000447929.5:c.*1185T>C	ENSP00000411262.1:n.*1185T>C
ENST00000466883.5:n.2195T>C
NM_000181.3:c.1805T>C	NP_000172.2:p.Leu602Pro
NM_001284290.1:c.1367T>C	NP_001271219.1:p.Leu456Pro
NM_001293104.1:c.1235T>C	NP_001280033.1:p.Leu412Pro
NM_001293105.1:c.1148T>C	NP_001280034.1:p.Leu383Pro
NR_120531.1:n.1851T>C
XM_005250297.3:c.1652T>C	XP_005250354.1:p.Leu551Pro
XM_011516113.1:c.1304T>C	XP_011514415.1:p.Leu435Pro
XM_011516114.1:c.1133T>C	XP_011514416.1:p.Leu378Pro
XM_005250297.4:c.1652T>C	XP_005250354.1:p.Leu551Pro
XM_011516114.2:c.1133T>C	XP_011514416.1:p.Leu378Pro
XM_017012091.1:c.1151T>C	XP_016867580.1:p.Leu384Pro
XM_017012092.1:c.1082T>C	XP_016867581.1:p.Leu361Pro
XM_017012093.2:c.980T>C	XP_016867582.1:p.Leu327Pro
XR_001744658.2:n.1612T>C
XR_001744659.2:n.1725T>C
XR_001744660.2:n.1657T>C
XR_001744661.2:n.1572T>C
XR_927461.3:n.1810T>C
NM_000181.4:c.1805T>C MANE Select	NP_000172.2:p.Leu602Pro
NM_001284290.2:c.1367T>C	NP_001271219.1:p.Leu456Pro
NM_001293104.2:c.1235T>C	NP_001280033.1:p.Leu412Pro
NM_001293105.2:c.1148T>C	NP_001280034.1:p.Leu383Pro
NR_120531.2:n.1750T>C