Canonical Allele Identifier: CA467667255

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 1587836
• ClinVar RCV Id: RCV002103580
• dbSNP Id: rs1375535475
• MyVariant Identifiers: chr9:g.137727005C>T (hg19) ; chr9:g.134835159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835159C>T , CM000671.2:g.134835159C>T	GRCh38
NC_000009.11:g.137727005C>T , CM000671.1:g.137727005C>T	GRCh37
NC_000009.10:g.136866826C>T	NCBI36
NG_008030.1:g.198354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5325C>T	ENSP00000360885.4:p.Ser1775=
ENST00000371817.8:c.5325C>T MANE Select	ENSP00000360882.3:p.Ser1775=
ENST00000371817.7:c.5325C>T	ENSP00000360882.3:p.Ser1775=
ENST00000371820.3:c.583C>T
ENST00000618395.4:c.5325C>T	ENSP00000481360.1:p.Ser1775=
NM_000093.4:c.5325C>T	NP_000084.3:p.Ser1775=
NM_001278074.1:c.5325C>T	NP_001265003.1:p.Ser1775=
NR_103451.2:n.71-14950G>A
NM_000093.5:c.5325C>T MANE Select	NP_000084.3:p.Ser1775=