Canonical Allele Identifier: CA400217597

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1051402
• ClinVar RCV Id: RCV001359432
• dbSNP Id: rs2144572836
• gnomAD v4: 17-50194722-C-T
• MyVariant Identifiers: chr17:g.48272083C>T (hg19) ; chr17:g.50194722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194722C>T , CM000679.2:g.50194722C>T	GRCh38
NC_000017.10:g.48272083C>T , CM000679.1:g.48272083C>T	GRCh37
NC_000017.9:g.45627082C>T	NCBI36
NG_007400.1:g.11918G>A , LRG_1:g.11918G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1460G>A MANE Select	ENSP00000225964.6:p.Arg487His
ENST00000225964.9:c.1460G>A	ENSP00000225964.5:p.Arg487His
ENST00000471344.1:n.404G>A
NM_000088.3:c.1460G>A , LRG_1t1:c.1460G>A	NP_000079.2:p.Arg487His
XM_005257058.3:c.1460G>A	XP_005257115.2:p.Arg487His
XM_005257059.3:c.957+1592G>A	XP_005257116.2:n.957+1592G>A
XM_011524341.1:c.1262G>A	XP_011522643.1:p.Arg421His
XM_005257058.4:c.1460G>A	XP_005257115.2:p.Arg487His
XM_005257059.4:c.957+1592G>A	XP_005257116.2:n.957+1592G>A
NM_000088.4:c.1460G>A MANE Select	NP_000079.2:p.Arg487His