Canonical Allele Identifier: CA122622
Gene: TIMP3 HGNC NCBI
SYN3 HGNC NCBI

Linked Data

ClinVar Variation Id: 12679
ClinVar RCV Id: RCV000013516
dbSNP Id: rs137853301
MyVariant Identifiers: chr22:g.33255293G>T (hg19) chr22:g.32859306G>T (hg38)
PubMed: PMID:7148944 PMID:8981947
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.32859306G>T , CM000684.2:g.32859306G>T GRCh38
NC_000022.10:g.33255293G>T , CM000684.1:g.33255293G>T GRCh37
NC_000022.9:g.31585293G>T NCBI36
NG_009117.1:g.63492G>T
NG_029545.1:g.204085C>A
NG_009117.2:g.62602G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000266085.7:c.565G>T (TIMP3) MANE Select ENSP00000266085.5:p.Gly189Cys
ENST00000358763.7:c.711+5609C>A (SYN3) MANE Select ENSP00000351614.2:n.711+5609C>A
ENST00000266085.6:c.565G>T (TIMP3) ENSP00000266085.5:p.Gly189Cys
ENST00000358763.6:c.711+5609C>A (SYN3) ENSP00000351614.2:n.711+5609C>A
ENST00000462268.1:n.225+5609C>A (SYN3)
NM_000362.4:c.565G>T (TIMP3) NP_000353.1:p.Gly189Cys
NM_001135774.1:c.708+5609C>A (SYN3) NP_001129246.1:n.708+5609C>A
NM_003490.3:c.711+5609C>A (SYN3) NP_003481.3:n.711+5609C>A
NM_133633.2:c.711+5609C>A (SYN3) NP_598344.2:n.711+5609C>A
XM_011530405.1:c.711+5609C>A (SYN3) XP_011528707.1:n.711+5609C>A
XM_011530406.1:c.711+5609C>A (SYN3) XP_011528708.1:n.711+5609C>A
XM_011530407.1:c.711+5609C>A (SYN3) XP_011528709.1:n.711+5609C>A
XM_011530408.1:c.711+5609C>A (SYN3) XP_011528710.1:n.711+5609C>A
XM_011530409.1:c.711+5609C>A (SYN3) XP_011528711.1:n.711+5609C>A
XM_011530410.1:c.357+5609C>A (SYN3) XP_011528712.1:n.357+5609C>A
XM_011530411.1:c.711+5609C>A (SYN3) XP_011528713.1:n.711+5609C>A
XM_011530413.1:c.711+5609C>A (SYN3) XP_011528715.1:n.711+5609C>A
XM_011530414.1:c.711+5609C>A (SYN3) XP_011528716.1:n.711+5609C>A
XR_937927.1:n.1195+5609C>A (SYN3)
XM_011530405.3:c.711+5609C>A (SYN3) XP_011528707.1:n.711+5609C>A
XM_011530406.3:c.711+5609C>A (SYN3) XP_011528708.1:n.711+5609C>A
XM_011530407.3:c.711+5609C>A (SYN3) XP_011528709.1:n.711+5609C>A
XM_011530408.2:c.711+5609C>A (SYN3) XP_011528710.1:n.711+5609C>A
XM_011530410.3:c.357+5609C>A (SYN3) XP_011528712.1:n.357+5609C>A
XM_017028961.2:c.711+5609C>A (SYN3) XP_016884450.1:n.711+5609C>A
XM_017028962.2:c.711+5609C>A (SYN3) XP_016884451.1:n.711+5609C>A
XM_017028963.2:c.711+5609C>A (SYN3) XP_016884452.1:n.711+5609C>A
XM_017028964.2:c.708+5609C>A (SYN3) XP_016884453.1:n.708+5609C>A
XR_001755317.2:n.948+5609C>A (SYN3)
NM_000362.5:c.565G>T (TIMP3) MANE Select NP_000353.1:p.Gly189Cys
NM_001135774.2:c.708+5609C>A (SYN3) NP_001129246.1:n.708+5609C>A
NM_001369907.1:c.711+5609C>A (SYN3) NP_001356836.1:n.711+5609C>A
NM_001369908.1:c.711+5609C>A (SYN3) NP_001356837.1:n.711+5609C>A
NM_001369909.1:c.708+5609C>A (SYN3) NP_001356838.1:n.708+5609C>A
NM_001369910.1:c.708+5609C>A (SYN3) NP_001356839.1:n.708+5609C>A
NM_003490.4:c.711+5609C>A (SYN3) MANE Select NP_003481.3:n.711+5609C>A
NM_133633.3:c.711+5609C>A (SYN3) NP_598344.2:n.711+5609C>A
Search 100 bp 5'
Search 100 bp 3'