Canonical Allele Identifier: CA321126
Gene: COL5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.134824793C>G
GRCh37 chr9:g.137716639C>G
Revel Score:
ENST00000371820 0.821
ENST00000371817 (MANE Select) 0.483
ENST00000355306 0.483
gnomAD v2:
9:137716639 C / G
gnomAD v3:
9:134824793 C / G
gnomAD v4:
chr9-134824793-C-G
Joint Max Group AF 0.00000443 (AFR)
ClinVar Allele:
210129
ClinVar RCV:
RCV000196702
RCV003593934
ClinVar Variation:
213060
dbSNP:
764446683
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134824793C>G , CM000671.2:g.134824793C>G GRCh38
NC_000009.11:g.137716639C>G , CM000671.1:g.137716639C>G GRCh37
NC_000009.10:g.136856460C>G NCBI36
NG_008030.1:g.187988C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.4892C>G ENSP00000360885.4:p.Thr1631Arg
ENST00000371817.8:c.4892C>G MANE Select ENSP00000360882.3:p.Thr1631Arg
ENST00000371817.7:c.4892C>G ENSP00000360882.3:p.Thr1631Arg
ENST00000371820.3:c.150C>G
ENST00000460264.5:n.360C>G
ENST00000465877.1:n.72C>G
ENST00000618395.4:c.4892C>G ENSP00000481360.1:p.Thr1631Arg
NM_000093.4:c.4892C>G NP_000084.3:p.Thr1631Arg
NM_001278074.1:c.4892C>G NP_001265003.1:p.Thr1631Arg
NR_103451.2:n.71-4584G>C
XR_929712.1:n.5294C>G
XR_929713.1:n.5294C>G
XM_017014266.2:c.4892C>G XP_016869755.1:p.Thr1631Arg
XR_001746183.1:n.5290C>G
NM_000093.5:c.4892C>G MANE Select NP_000084.3:p.Thr1631Arg
Search 100 bp 5'
Search 100 bp 3'