Canonical Allele Identifier: CA367637430

Gene: GUSB

Linked Data

• COSMIC: COSM6245063
• MyVariant Identifiers: chr7:g.65425997G>T (hg19) ; chr7:g.65961010G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.65961010G>T , CM000669.2:g.65961010G>T	GRCh38
NC_000007.13:g.65425997G>T , CM000669.1:g.65425997G>T	GRCh37
NC_000007.12:g.65063432G>T	NCBI36
NG_016197.1:g.26305C>A
NG_051954.1:g.92912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304895.9:c.1843C>A MANE Select	ENSP00000302728.4:p.Pro615Thr
ENST00000304895.8:c.1843C>A	ENSP00000302728.4:p.Pro615Thr
ENST00000421103.5:c.1405C>A	ENSP00000391390.1:p.Pro469Thr
ENST00000430730.5:c.*1110C>A	ENSP00000411859.1:n.*1110C>A
ENST00000447929.5:c.*1223C>A	ENSP00000411262.1:n.*1223C>A
ENST00000466883.5:n.2233C>A
NM_000181.3:c.1843C>A	NP_000172.2:p.Pro615Thr
NM_001284290.1:c.1405C>A	NP_001271219.1:p.Pro469Thr
NM_001293104.1:c.1273C>A	NP_001280033.1:p.Pro425Thr
NM_001293105.1:c.1186C>A	NP_001280034.1:p.Pro396Thr
NR_120531.1:n.1889C>A
XM_005250297.3:c.1690C>A	XP_005250354.1:p.Pro564Thr
XM_011516113.1:c.1342C>A	XP_011514415.1:p.Pro448Thr
XM_011516114.1:c.1171C>A	XP_011514416.1:p.Pro391Thr
XM_005250297.4:c.1690C>A	XP_005250354.1:p.Pro564Thr
XM_011516114.2:c.1171C>A	XP_011514416.1:p.Pro391Thr
XM_017012091.1:c.1189C>A	XP_016867580.1:p.Pro397Thr
XM_017012092.1:c.1120C>A	XP_016867581.1:p.Pro374Thr
XM_017012093.2:c.1018C>A	XP_016867582.1:p.Pro340Thr
XR_001744658.2:n.1650C>A
XR_001744659.2:n.1763C>A
XR_001744660.2:n.1695C>A
XR_001744661.2:n.1610C>A
XR_927461.3:n.1848C>A
NM_000181.4:c.1843C>A MANE Select	NP_000172.2:p.Pro615Thr
NM_001284290.2:c.1405C>A	NP_001271219.1:p.Pro469Thr
NM_001293104.2:c.1273C>A	NP_001280033.1:p.Pro425Thr
NM_001293105.2:c.1186C>A	NP_001280034.1:p.Pro396Thr
NR_120531.2:n.1788C>A