Canonical Allele Identifier: CA10398605
Gene: TIMP1 HGNC NCBI
SYN1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.47585586T>C
GRCh37 chrX:g.47444985T>C
Revel Score:
ENST00000445623 0.018
gnomAD v2:
X:47444985 T / C
gnomAD v3:
X:47585586 T / C
gnomAD v4:
chrX-47585586-T-C
Joint Max Group AF 0.51878443 (SAS)
Genomes Max Group AF 0.49328991 (SAS)
Exomes Max Group AF 0.51902469 (SAS)
ClinVar RCV:
RCV001513027
ClinVar Variation:
1165693
dbSNP:
4898
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47585586T>C , CM000685.2:g.47585586T>C GRCh38
NC_000023.10:g.47444985T>C , CM000685.1:g.47444985T>C GRCh37
NC_000023.9:g.47329929T>C NCBI36
NG_008437.1:g.39272A>G
NG_012533.1:g.8296T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218388.9:c.372T>C (TIMP1) MANE Select ENSP00000218388.4:p.Phe124=
ENST00000295987.13:c.775-8085A>G (SYN1) MANE Select ENSP00000295987.7:n.775-8085A>G
ENST00000340666.5:c.775-8085A>G (SYN1) ENSP00000343206.4:n.775-8085A>G
ENST00000218388.8:c.372T>C (TIMP1) ENSP00000218388.4:p.Phe124=
ENST00000295987.11:c.775-8085A>G (SYN1) ENSP00000295987.7:n.775-8085A>G
ENST00000340666.4:c.775-8085A>G (SYN1) ENSP00000343206.4:n.775-8085A>G
ENST00000377017.5:c.180T>C (TIMP1) ENSP00000366216.1:p.Phe60=
ENST00000445623.1:c.245T>C (TIMP1)
ENST00000456754.6:c.*172T>C (TIMP1) ENSP00000406671.2:n.*172T>C
NM_003254.2:c.372T>C (TIMP1) NP_003245.1:p.Phe124=
NM_006950.3:c.775-8085A>G (SYN1) MANE Select NP_008881.2:n.775-8085A>G
NM_133499.2:c.775-8085A>G (SYN1) NP_598006.1:n.775-8085A>G
XM_005272645.3:c.354T>C (TIMP1) XP_005272702.1:p.Phe118=
XM_017029766.2:c.354T>C (TIMP1) XP_016885255.1:p.Phe118=
NM_003254.3:c.372T>C (TIMP1) MANE Select NP_003245.1:p.Phe124=
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