Canonical Allele Identifier: CA16044397
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375637
ClinVar RCV Id: RCV000417109
dbSNP Id: rs1057519596
MyVariant Identifiers: chr9:g.137659171dupC (hg19) chr9:g.134767325dupC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134767325dup , CM000671.2:g.134767325dup GRCh38
NC_000009.11:g.137659171dup , CM000671.1:g.137659171dup GRCh37
NC_000009.10:g.136798992dup NCBI36
NG_008030.1:g.130520dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.2203dup ENSP00000360885.4:p.Gln735ProfsTer25
ENST00000371817.8:c.2203dup MANE Select ENSP00000360882.3:p.Gln735ProfsTer25
ENST00000371817.7:c.2203dup ENSP00000360882.3:p.Gln735ProfsTer25
ENST00000618395.4:c.2203dup ENSP00000481360.1:p.Gln735ProfsTer25
NM_000093.4:c.2203dup NP_000084.3:p.Gln735ProfsTer25
NM_001278074.1:c.2203dup NP_001265003.1:p.Gln735ProfsTer25
XR_929712.1:n.2605dup
XR_929713.1:n.2605dup
XM_017014266.2:c.2203dup XP_016869755.1:p.Gln735ProfsTer25
XR_001746183.1:n.2601dup
NM_000093.5:c.2203dup MANE Select NP_000084.3:p.Gln735ProfsTer25
Search 100 bp 5'
Search 100 bp 3'