Canonical Allele Identifier: CA321730
Gene: COL5A1 HGNC NCBI
ClinVar RCV:
RCV000197283
RCV002229072
RCV002277489
RCV002381664
ClinVar Variation:
213023
dbSNP:
374020067
gnomAD v2:
9:137623929 C / T
gnomAD v3:
9:134732083 C / T
gnomAD v4:
chr9-134732083-C-T
Joint Max Group AF 0.00010201 (AMR)
Genomes Max Group AF 0.00017007 (AMR)
Exomes Max Group AF 0.00007997 (SAS)
MyVariant.info:
GRCh38 chr9:g.134732083C>T
GRCh37 chr9:g.137623929C>T
Revel Score:
ENST00000371817 (MANE Select) 0.730
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134732083C>T , CM000671.2:g.134732083C>T GRCh38
NC_000009.11:g.137623929C>T , CM000671.1:g.137623929C>T GRCh37
NC_000009.10:g.136763750C>T NCBI36
NG_008030.1:g.95278C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1345C>T ENSP00000360885.4:p.Arg449Trp
ENST00000371817.8:c.1345C>T MANE Select ENSP00000360882.3:p.Arg449Trp
ENST00000371817.7:c.1345C>T ENSP00000360882.3:p.Arg449Trp
ENST00000469093.1:n.84C>T
ENST00000618395.4:c.1345C>T ENSP00000481360.1:p.Arg449Trp
NM_000093.4:c.1345C>T NP_000084.3:p.Arg449Trp
NM_001278074.1:c.1345C>T NP_001265003.1:p.Arg449Trp
XR_929712.1:n.1747C>T
XR_929713.1:n.1747C>T
XM_017014266.2:c.1345C>T XP_016869755.1:p.Arg449Trp
XR_001746183.1:n.1743C>T
NM_000093.5:c.1345C>T MANE Select NP_000084.3:p.Arg449Trp
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