Canonical Allele Identifier: CA411540360

Gene: TIMP3 SYN3

Linked Data

• ClinVar Variation Id: 1051512
• ClinVar RCV Id: RCV001359563
• dbSNP Id: rs1223343414
• gnomAD v2: 22-33255271-C-G
• gnomAD v4: 22-32859284-C-G
• MyVariant Identifiers: chr22:g.33255271C>G (hg19) ; chr22:g.32859284C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32859284C>G , CM000684.2:g.32859284C>G	GRCh38
NC_000022.10:g.33255271C>G , CM000684.1:g.33255271C>G	GRCh37
NC_000022.9:g.31585271C>G	NCBI36
NG_009117.1:g.63470C>G
NG_029545.1:g.204107G>C
NG_009117.2:g.62580C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000266085.7:c.543C>G (TIMP3) MANE Select	ENSP00000266085.5:p.His181Gln
ENST00000358763.7:c.711+5631G>C (SYN3) MANE Select	ENSP00000351614.2:n.711+5631G>C
ENST00000266085.6:c.543C>G (TIMP3)	ENSP00000266085.5:p.His181Gln
ENST00000358763.6:c.711+5631G>C (SYN3)	ENSP00000351614.2:n.711+5631G>C
ENST00000462268.1:n.225+5631G>C (SYN3)
NM_000362.4:c.543C>G (TIMP3)	NP_000353.1:p.His181Gln
NM_001135774.1:c.708+5631G>C (SYN3)	NP_001129246.1:n.708+5631G>C
NM_003490.3:c.711+5631G>C (SYN3)	NP_003481.3:n.711+5631G>C
NM_133633.2:c.711+5631G>C (SYN3)	NP_598344.2:n.711+5631G>C
XM_011530405.1:c.711+5631G>C (SYN3)	XP_011528707.1:n.711+5631G>C
XM_011530406.1:c.711+5631G>C (SYN3)	XP_011528708.1:n.711+5631G>C
XM_011530407.1:c.711+5631G>C (SYN3)	XP_011528709.1:n.711+5631G>C
XM_011530408.1:c.711+5631G>C (SYN3)	XP_011528710.1:n.711+5631G>C
XM_011530409.1:c.711+5631G>C (SYN3)	XP_011528711.1:n.711+5631G>C
XM_011530410.1:c.357+5631G>C (SYN3)	XP_011528712.1:n.357+5631G>C
XM_011530411.1:c.711+5631G>C (SYN3)	XP_011528713.1:n.711+5631G>C
XM_011530413.1:c.711+5631G>C (SYN3)	XP_011528715.1:n.711+5631G>C
XM_011530414.1:c.711+5631G>C (SYN3)	XP_011528716.1:n.711+5631G>C
XR_937927.1:n.1195+5631G>C (SYN3)
XM_011530405.3:c.711+5631G>C (SYN3)	XP_011528707.1:n.711+5631G>C
XM_011530406.3:c.711+5631G>C (SYN3)	XP_011528708.1:n.711+5631G>C
XM_011530407.3:c.711+5631G>C (SYN3)	XP_011528709.1:n.711+5631G>C
XM_011530408.2:c.711+5631G>C (SYN3)	XP_011528710.1:n.711+5631G>C
XM_011530410.3:c.357+5631G>C (SYN3)	XP_011528712.1:n.357+5631G>C
XM_017028961.2:c.711+5631G>C (SYN3)	XP_016884450.1:n.711+5631G>C
XM_017028962.2:c.711+5631G>C (SYN3)	XP_016884451.1:n.711+5631G>C
XM_017028963.2:c.711+5631G>C (SYN3)	XP_016884452.1:n.711+5631G>C
XM_017028964.2:c.708+5631G>C (SYN3)	XP_016884453.1:n.708+5631G>C
XR_001755317.2:n.948+5631G>C (SYN3)
NM_000362.5:c.543C>G (TIMP3) MANE Select	NP_000353.1:p.His181Gln
NM_001135774.2:c.708+5631G>C (SYN3)	NP_001129246.1:n.708+5631G>C
NM_001369907.1:c.711+5631G>C (SYN3)	NP_001356836.1:n.711+5631G>C
NM_001369908.1:c.711+5631G>C (SYN3)	NP_001356837.1:n.711+5631G>C
NM_001369909.1:c.708+5631G>C (SYN3)	NP_001356838.1:n.708+5631G>C
NM_001369910.1:c.708+5631G>C (SYN3)	NP_001356839.1:n.708+5631G>C
NM_003490.4:c.711+5631G>C (SYN3) MANE Select	NP_003481.3:n.711+5631G>C
NM_133633.3:c.711+5631G>C (SYN3)	NP_598344.2:n.711+5631G>C