Canonical Allele Identifier: CA5319808

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 365719
• ClinVar RCV Id: RCV000302593 ; RCV000634690 ; RCV000434210 ; RCV002314092 ; RCV002230206 ; RCV002278629
• dbSNP Id: rs376248130
• ExAC: 9:137697033 A / G
• gnomAD v2: 9-137697033-A-G
• gnomAD v3: 9-134805187-A-G
• gnomAD v4: 9-134805187-A-G
• MyVariant Identifiers: chr9:g.137697033A>G (hg19) ; chr9:g.137697033_137697034delinsGG (hg19) ; chr9:g.134805187A>G (hg38) ; chr9:g.134805187_134805188delinsGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134805187A>G , CM000671.2:g.134805187A>G	GRCh38
NC_000009.11:g.137697033A>G , CM000671.1:g.137697033A>G	GRCh37
NC_000009.10:g.136836854A>G	NCBI36
NG_008030.1:g.168382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.3231A>G	ENSP00000360885.4:p.Glu1077=
ENST00000371817.8:c.3231A>G MANE Select	ENSP00000360882.3:p.Glu1077=
ENST00000371817.7:c.3231A>G	ENSP00000360882.3:p.Glu1077=
ENST00000618395.4:c.3231A>G	ENSP00000481360.1:p.Glu1077=
NM_000093.4:c.3231A>G	NP_000084.3:p.Glu1077=
NM_001278074.1:c.3231A>G	NP_001265003.1:p.Glu1077=
XR_929712.1:n.3633A>G
XR_929713.1:n.3633A>G
XM_017014266.2:c.3231A>G	XP_016869755.1:p.Glu1077=
XR_001746183.1:n.3629A>G
NM_000093.5:c.3231A>G MANE Select	NP_000084.3:p.Glu1077=