Canonical Allele Identifier: CA2573154183

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1362073
• ClinVar RCV Id: RCV001899990 ; RCV004552062
• dbSNP Id: rs2144572314

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194629G>T , CM000679.2:g.50194629G>T	GRCh38
NC_000017.10:g.48271990G>T , CM000679.1:g.48271990G>T	GRCh37
NC_000017.9:g.45626989G>T	NCBI36
NG_007400.1:g.12011C>A , LRG_1:g.12011C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1462-3C>A MANE Select	ENSP00000225964.6:n.1462-3C>A
ENST00000225964.9:c.1462-3C>A	ENSP00000225964.5:n.1462-3C>A
ENST00000471344.1:n.406-3C>A
NM_000088.3:c.1462-3C>A , LRG_1t1:c.1462-3C>A	NP_000079.2:n.1462-3C>A
XM_005257058.3:c.1462-3C>A	XP_005257115.2:n.1462-3C>A
XM_005257059.3:c.957+1685C>A	XP_005257116.2:n.957+1685C>A
XM_011524341.1:c.1264-3C>A	XP_011522643.1:n.1264-3C>A
XM_005257058.4:c.1462-3C>A	XP_005257115.2:n.1462-3C>A
XM_005257059.4:c.957+1685C>A	XP_005257116.2:n.957+1685C>A
NM_000088.4:c.1462-3C>A MANE Select	NP_000079.2:n.1462-3C>A