Canonical Allele Identifier: CA5318838

Gene: COL5A1

Linked Data

• dbSNP Id: rs754755873
• ExAC: 9:137642391 C / T
• gnomAD v2: 9-137642391-C-T
• gnomAD v4: 9-134750545-C-T
• MyVariant Identifiers: chr9:g.137642391C>T (hg19) ; chr9:g.134750545C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750545C>T , CM000671.2:g.134750545C>T	GRCh38
NC_000009.11:g.137642391C>T , CM000671.1:g.137642391C>T	GRCh37
NC_000009.10:g.136782212C>T	NCBI36
NG_008030.1:g.113740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1498C>T	ENSP00000360885.4:p.Pro500Ser
ENST00000371817.8:c.1498C>T MANE Select	ENSP00000360882.3:p.Pro500Ser
ENST00000371817.7:c.1498C>T	ENSP00000360882.3:p.Pro500Ser
ENST00000618395.4:c.1498C>T	ENSP00000481360.1:p.Pro500Ser
NM_000093.4:c.1498C>T	NP_000084.3:p.Pro500Ser
NM_001278074.1:c.1498C>T	NP_001265003.1:p.Pro500Ser
XR_929712.1:n.1900C>T
XR_929713.1:n.1900C>T
XM_017014266.2:c.1498C>T	XP_016869755.1:p.Pro500Ser
XR_001746183.1:n.1896C>T
NM_000093.5:c.1498C>T MANE Select	NP_000084.3:p.Pro500Ser