Canonical Allele Identifier: CA5320683

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 365734
• ClinVar RCV Id: RCV000294248 ; RCV000999278 ; RCV002230209 ; RCV003230491 ; RCV002314094
• dbSNP Id: rs199703883
• ExAC: 9:137726973 C / T
• gnomAD v2: 9-137726973-C-T
• gnomAD v3: 9-134835127-C-T
• gnomAD v4: 9-134835127-C-T
• COSMIC: COSM3655485
• MyVariant Identifiers: chr9:g.137726973C>T (hg19) ; chr9:g.134835127C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835127C>T , CM000671.2:g.134835127C>T	GRCh38
NC_000009.11:g.137726973C>T , CM000671.1:g.137726973C>T	GRCh37
NC_000009.10:g.136866794C>T	NCBI36
NG_008030.1:g.198322C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5293C>T	ENSP00000360885.4:p.Arg1765Cys
ENST00000371817.8:c.5293C>T MANE Select	ENSP00000360882.3:p.Arg1765Cys
ENST00000371817.7:c.5293C>T	ENSP00000360882.3:p.Arg1765Cys
ENST00000371820.3:c.551C>T
ENST00000618395.4:c.5293C>T	ENSP00000481360.1:p.Arg1765Cys
NM_000093.4:c.5293C>T	NP_000084.3:p.Arg1765Cys
NM_001278074.1:c.5293C>T	NP_001265003.1:p.Arg1765Cys
NR_103451.2:n.71-14918G>A
NM_000093.5:c.5293C>T MANE Select	NP_000084.3:p.Arg1765Cys