Canonical Allele Identifier: CA290293
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 136901
ClinVar RCV Id: RCV000124460 RCV000314817 RCV000587106 RCV002269902 RCV002312843 RCV000474132 RCV002277213
dbSNP Id: rs2228559
ExAC: 9:137713948 C / T
gnomAD v2: 9-137713948-C-T
gnomAD v3: 9-134822102-C-T
gnomAD v4: 9-134822102-C-T
MyVariant Identifiers: chr9:g.137713948C>T (hg19) chr9:g.134822102C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134822102C>T , CM000671.2:g.134822102C>T GRCh38
NC_000009.11:g.137713948C>T , CM000671.1:g.137713948C>T GRCh37
NC_000009.10:g.136853769C>T NCBI36
NG_008030.1:g.185297C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.4560C>T ENSP00000360885.4:p.Ile1520=
ENST00000371817.8:c.4560C>T MANE Select ENSP00000360882.3:p.Ile1520=
ENST00000371817.7:c.4560C>T ENSP00000360882.3:p.Ile1520=
ENST00000618395.4:c.4560C>T ENSP00000481360.1:p.Ile1520=
NM_000093.4:c.4560C>T NP_000084.3:p.Ile1520=
NM_001278074.1:c.4560C>T NP_001265003.1:p.Ile1520=
NR_103451.2:n.71-1893G>A
XR_929712.1:n.4962C>T
XR_929713.1:n.4962C>T
XM_017014266.2:c.4560C>T XP_016869755.1:p.Ile1520=
XR_001746183.1:n.4958C>T
NM_000093.5:c.4560C>T MANE Select NP_000084.3:p.Ile1520=
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