Canonical Allele Identifier: CA375460387

Gene: COL5A1

Linked Data

• dbSNP Id: rs1588615405
• MyVariant Identifiers: chr9:g.137726865A>C (hg19) ; chr9:g.134835019A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835019A>C , CM000671.2:g.134835019A>C	GRCh38
NC_000009.11:g.137726865A>C , CM000671.1:g.137726865A>C	GRCh37
NC_000009.10:g.136866686A>C	NCBI36
NG_008030.1:g.198214A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5185A>C	ENSP00000360885.4:p.Thr1729Pro
ENST00000371817.8:c.5185A>C MANE Select	ENSP00000360882.3:p.Thr1729Pro
ENST00000371817.7:c.5185A>C	ENSP00000360882.3:p.Thr1729Pro
ENST00000371820.3:c.443A>C
ENST00000618395.4:c.5185A>C	ENSP00000481360.1:p.Thr1729Pro
NM_000093.4:c.5185A>C	NP_000084.3:p.Thr1729Pro
NM_001278074.1:c.5185A>C	NP_001265003.1:p.Thr1729Pro
NR_103451.2:n.71-14810T>G
XR_929712.1:n.5869A>C
XR_929713.1:n.5737A>C
NM_000093.5:c.5185A>C MANE Select	NP_000084.3:p.Thr1729Pro