Canonical Allele Identifier: CA375460407

Gene: COL5A1

Linked Data

• MyVariant Identifiers: chr9:g.137726875G>T (hg19) ; chr9:g.134835029G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835029G>T , CM000671.2:g.134835029G>T	GRCh38
NC_000009.11:g.137726875G>T , CM000671.1:g.137726875G>T	GRCh37
NC_000009.10:g.136866696G>T	NCBI36
NG_008030.1:g.198224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5195G>T	ENSP00000360885.4:p.Arg1732Leu
ENST00000371817.8:c.5195G>T MANE Select	ENSP00000360882.3:p.Arg1732Leu
ENST00000371817.7:c.5195G>T	ENSP00000360882.3:p.Arg1732Leu
ENST00000371820.3:c.453G>T
ENST00000618395.4:c.5195G>T	ENSP00000481360.1:p.Arg1732Leu
NM_000093.4:c.5195G>T	NP_000084.3:p.Arg1732Leu
NM_001278074.1:c.5195G>T	NP_001265003.1:p.Arg1732Leu
NR_103451.2:n.71-14820C>A
XR_929712.1:n.5879G>T
XR_929713.1:n.5747G>T
NM_000093.5:c.5195G>T MANE Select	NP_000084.3:p.Arg1732Leu