Canonical Allele Identifier: CA411539599

Gene: TIMP3 SYN3

Linked Data

• ClinVar Variation Id: 545105
• ClinVar RCV Id: RCV000656328
• dbSNP Id: rs1555985260
• MyVariant Identifiers: chr22:g.33253342T>C (hg19) ; chr22:g.32857355T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.32857355T>C , CM000684.2:g.32857355T>C	GRCh38
NC_000022.10:g.33253342T>C , CM000684.1:g.33253342T>C	GRCh37
NC_000022.9:g.31583342T>C	NCBI36
NG_009117.1:g.61541T>C
NG_029545.1:g.206036A>G
NG_009117.2:g.60651T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266085.7:c.311T>C (TIMP3) MANE Select	ENSP00000266085.5:p.Leu104Pro
ENST00000358763.7:c.711+7560A>G (SYN3) MANE Select	ENSP00000351614.2:n.711+7560A>G
ENST00000266085.6:c.311T>C (TIMP3)	ENSP00000266085.5:p.Leu104Pro
ENST00000358763.6:c.711+7560A>G (SYN3)	ENSP00000351614.2:n.711+7560A>G
ENST00000462268.1:n.225+7560A>G (SYN3)
NM_000362.4:c.311T>C (TIMP3)	NP_000353.1:p.Leu104Pro
NM_001135774.1:c.708+7560A>G (SYN3)	NP_001129246.1:n.708+7560A>G
NM_003490.3:c.711+7560A>G (SYN3)	NP_003481.3:n.711+7560A>G
NM_133633.2:c.711+7560A>G (SYN3)	NP_598344.2:n.711+7560A>G
XM_011530405.1:c.711+7560A>G (SYN3)	XP_011528707.1:n.711+7560A>G
XM_011530406.1:c.711+7560A>G (SYN3)	XP_011528708.1:n.711+7560A>G
XM_011530407.1:c.711+7560A>G (SYN3)	XP_011528709.1:n.711+7560A>G
XM_011530408.1:c.711+7560A>G (SYN3)	XP_011528710.1:n.711+7560A>G
XM_011530409.1:c.711+7560A>G (SYN3)	XP_011528711.1:n.711+7560A>G
XM_011530410.1:c.357+7560A>G (SYN3)	XP_011528712.1:n.357+7560A>G
XM_011530411.1:c.711+7560A>G (SYN3)	XP_011528713.1:n.711+7560A>G
XM_011530413.1:c.711+7560A>G (SYN3)	XP_011528715.1:n.711+7560A>G
XM_011530414.1:c.711+7560A>G (SYN3)	XP_011528716.1:n.711+7560A>G
XR_937927.1:n.1195+7560A>G (SYN3)
XM_011530405.3:c.711+7560A>G (SYN3)	XP_011528707.1:n.711+7560A>G
XM_011530406.3:c.711+7560A>G (SYN3)	XP_011528708.1:n.711+7560A>G
XM_011530407.3:c.711+7560A>G (SYN3)	XP_011528709.1:n.711+7560A>G
XM_011530408.2:c.711+7560A>G (SYN3)	XP_011528710.1:n.711+7560A>G
XM_011530410.3:c.357+7560A>G (SYN3)	XP_011528712.1:n.357+7560A>G
XM_017028961.2:c.711+7560A>G (SYN3)	XP_016884450.1:n.711+7560A>G
XM_017028962.2:c.711+7560A>G (SYN3)	XP_016884451.1:n.711+7560A>G
XM_017028963.2:c.711+7560A>G (SYN3)	XP_016884452.1:n.711+7560A>G
XM_017028964.2:c.708+7560A>G (SYN3)	XP_016884453.1:n.708+7560A>G
XR_001755317.2:n.948+7560A>G (SYN3)
NM_000362.5:c.311T>C (TIMP3) MANE Select	NP_000353.1:p.Leu104Pro
NM_001135774.2:c.708+7560A>G (SYN3)	NP_001129246.1:n.708+7560A>G
NM_001369907.1:c.711+7560A>G (SYN3)	NP_001356836.1:n.711+7560A>G
NM_001369908.1:c.711+7560A>G (SYN3)	NP_001356837.1:n.711+7560A>G
NM_001369909.1:c.708+7560A>G (SYN3)	NP_001356838.1:n.708+7560A>G
NM_001369910.1:c.708+7560A>G (SYN3)	NP_001356839.1:n.708+7560A>G
NM_003490.4:c.711+7560A>G (SYN3) MANE Select	NP_003481.3:n.711+7560A>G
NM_133633.3:c.711+7560A>G (SYN3)	NP_598344.2:n.711+7560A>G