Canonical Allele Identifier: CA5320257
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365728
ClinVar RCV Id: RCV002230724 RCV002278631
dbSNP Id: rs201875250
ExAC: 9:137710725 C / T
gnomAD v2: 9-137710725-C-T
gnomAD v3: 9-134818879-C-T
gnomAD v4: 9-134818879-C-T
COSMIC: COSM3214363
MyVariant Identifiers: chr9:g.137710725C>T (hg19) chr9:g.134818879C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134818879C>T , CM000671.2:g.134818879C>T GRCh38
NC_000009.11:g.137710725C>T , CM000671.1:g.137710725C>T GRCh37
NC_000009.10:g.136850546C>T NCBI36
NG_008030.1:g.182074C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.4370C>T ENSP00000360885.4:p.Pro1457Leu
ENST00000371817.8:c.4370C>T MANE Select ENSP00000360882.3:p.Pro1457Leu
ENST00000371817.7:c.4370C>T ENSP00000360882.3:p.Pro1457Leu
ENST00000618395.4:c.4370C>T ENSP00000481360.1:p.Pro1457Leu
NM_000093.4:c.4370C>T NP_000084.3:p.Pro1457Leu
NM_001278074.1:c.4370C>T NP_001265003.1:p.Pro1457Leu
XR_929712.1:n.4772C>T
XR_929713.1:n.4772C>T
XM_017014266.2:c.4370C>T XP_016869755.1:p.Pro1457Leu
XR_001746183.1:n.4768C>T
NM_000093.5:c.4370C>T MANE Select NP_000084.3:p.Pro1457Leu
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