Canonical Allele Identifier: CA467667307

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137727026C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835180C>T , CM000671.2:g.134835180C>T	GRCh38
NC_000009.11:g.137727026C>T , CM000671.1:g.137727026C>T	GRCh37
NC_000009.10:g.136866847C>T	NCBI36
NG_008030.1:g.198375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5346C>T	ENSP00000360885.4:p.Ile1782=
ENST00000371817.8:c.5346C>T MANE Select	ENSP00000360882.3:p.Ile1782=
ENST00000371817.7:c.5346C>T	ENSP00000360882.3:p.Ile1782=
ENST00000371820.3:c.604C>T
ENST00000618395.4:c.5346C>T	ENSP00000481360.1:p.Ile1782=
NM_000093.4:c.5346C>T	NP_000084.3:p.Ile1782=
NM_001278074.1:c.5346C>T	NP_001265003.1:p.Ile1782=
NR_103451.2:n.71-14971G>A
NM_000093.5:c.5346C>T MANE Select	NP_000084.3:p.Ile1782=