Canonical Allele Identifier: CA322728
Gene: COL5A1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.134824793C>T
GRCh37 chr9:g.137716639C>T
Revel Score:
ENST00000371817 (MANE Select) 0.622
ENST00000355306 0.622
gnomAD v2:
9:137716639 C / T
gnomAD v3:
9:134824793 C / T
gnomAD v4:
chr9-134824793-C-T
Joint Max Group AF 0.00001567 (NFE)
Exomes Max Group AF 0.00001627 (NFE)
ClinVar Allele:
210130
ClinVar RCV:
RCV000198222
RCV000703884
RCV002225095
ClinVar Variation:
213061
dbSNP:
764446683
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.4892C>T ENSP00000360885.4:p.Thr1631Met
ENST00000371817.8:c.4892C>T MANE Select ENSP00000360882.3:p.Thr1631Met
ENST00000371817.7:c.4892C>T ENSP00000360882.3:p.Thr1631Met
ENST00000371820.3:c.150C>T
ENST00000460264.5:n.360C>T
ENST00000465877.1:n.72C>T
ENST00000618395.4:c.4892C>T ENSP00000481360.1:p.Thr1631Met
NM_000093.4:c.4892C>T NP_000084.3:p.Thr1631Met
NM_001278074.1:c.4892C>T NP_001265003.1:p.Thr1631Met
NR_103451.2:n.71-4584G>A
XR_929712.1:n.5294C>T
XR_929713.1:n.5294C>T
XM_017014266.2:c.4892C>T XP_016869755.1:p.Thr1631Met
XR_001746183.1:n.5290C>T
NM_000093.5:c.4892C>T MANE Select NP_000084.3:p.Thr1631Met
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