Canonical Allele Identifier: CA2580094386

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2011978
• ClinVar RCV Id: RCV002856124

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199296dup , CM000679.2:g.50199296dup	GRCh38
NC_000017.10:g.48276657dup , CM000679.1:g.48276657dup	GRCh37
NC_000017.9:g.45631656dup	NCBI36
NG_007400.1:g.7344dup , LRG_1:g.7344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.401dup MANE Select	ENSP00000225964.6:p.Gly136TrpfsTer?
ENST00000225964.9:c.401dup	ENSP00000225964.5:p.Gly136TrpfsTer?
ENST00000474644.1:n.622dup
ENST00000507689.1:c.455dup	ENSP00000460459.1:p.Gly154TrpfsTer?
NM_000088.3:c.401dup , LRG_1t1:c.401dup	NP_000079.2:p.Gly136TrpfsTer?
XM_005257058.3:c.401dup	XP_005257115.2:p.Gly136TrpfsTer?
XM_005257059.3:c.401dup	XP_005257116.2:p.Gly136TrpfsTer?
XM_011524341.1:c.401dup	XP_011522643.1:p.Gly136TrpfsTer?
XM_005257058.4:c.401dup	XP_005257115.2:p.Gly136TrpfsTer?
XM_005257059.4:c.401dup	XP_005257116.2:p.Gly136TrpfsTer?
NM_000088.4:c.401dup MANE Select	NP_000079.2:p.Gly136TrpfsTer?