Canonical Allele Identifier: CA2573154174

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1454642
• ClinVar RCV Id: RCV001939550 ; RCV003490971
• dbSNP Id: rs1351742344
• gnomAD v4: 17-50194130-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194136dup , CM000679.2:g.50194136dup	GRCh38
NC_000017.10:g.48271497dup , CM000679.1:g.48271497dup	GRCh37
NC_000017.9:g.45626496dup	NCBI36
NG_007400.1:g.12509dup , LRG_1:g.12509dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1667dup MANE Select	ENSP00000225964.6:p.Gly557TrpfsTer30
ENST00000225964.9:c.1667dup	ENSP00000225964.5:p.Gly557TrpfsTer30
ENST00000463440.1:n.57dup
ENST00000471344.1:n.611dup
NM_000088.3:c.1667dup , LRG_1t1:c.1667dup	NP_000079.2:p.Gly557TrpfsTer30
XM_005257058.3:c.1667dup	XP_005257115.2:p.Gly557TrpfsTer30
XM_005257059.3:c.958-1438dup	XP_005257116.2:n.958-1438dup
XM_011524341.1:c.1469dup	XP_011522643.1:p.Gly491TrpfsTer30
XM_005257058.4:c.1667dup	XP_005257115.2:p.Gly557TrpfsTer30
XM_005257059.4:c.958-1438dup	XP_005257116.2:n.958-1438dup
NM_000088.4:c.1667dup MANE Select	NP_000079.2:p.Gly557TrpfsTer30