Canonical Allele Identifier: CA2697560410

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2751675
• ClinVar RCV Id: RCV003516928

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194759dup , CM000679.2:g.50194759dup	GRCh38
NC_000017.10:g.48272120dup , CM000679.1:g.48272120dup	GRCh37
NC_000017.9:g.45627119dup	NCBI36
NG_007400.1:g.11883dup , LRG_1:g.11883dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1425dup MANE Select	ENSP00000225964.6:p.Gly476ArgfsTer17
ENST00000225964.9:c.1425dup	ENSP00000225964.5:p.Gly476ArgfsTer17
ENST00000471344.1:n.369dup
NM_000088.3:c.1425dup , LRG_1t1:c.1425dup	NP_000079.2:p.Gly476ArgfsTer17
XM_005257058.3:c.1425dup	XP_005257115.2:p.Gly476ArgfsTer17
XM_005257059.3:c.957+1557dup	XP_005257116.2:n.957+1557dup
XM_011524341.1:c.1227dup	XP_011522643.1:p.Gly410ArgfsTer17
XM_005257058.4:c.1425dup	XP_005257115.2:p.Gly476ArgfsTer17
XM_005257059.4:c.957+1557dup	XP_005257116.2:n.957+1557dup
NM_000088.4:c.1425dup MANE Select	NP_000079.2:p.Gly476ArgfsTer17