Canonical Allele Identifier: CA2573050781

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1699328
• ClinVar RCV Id: RCV002273185
• dbSNP Id: rs2144590955

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199246dup , CM000679.2:g.50199246dup	GRCh38
NC_000017.10:g.48276607dup , CM000679.1:g.48276607dup	GRCh37
NC_000017.9:g.45631606dup	NCBI36
NG_007400.1:g.7395dup , LRG_1:g.7395dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.452dup MANE Select	ENSP00000225964.6:p.Pro152ThrfsTer17
ENST00000225964.9:c.452dup	ENSP00000225964.5:p.Pro152ThrfsTer17
NM_000088.3:c.452dup , LRG_1t1:c.452dup	NP_000079.2:p.Pro152ThrfsTer17
XM_005257058.3:c.452dup	XP_005257115.2:p.Pro152ThrfsTer17
XM_005257059.3:c.452dup	XP_005257116.2:p.Pro152ThrfsTer17
XM_011524341.1:c.452dup	XP_011522643.1:p.Pro152ThrfsTer17
XM_005257058.4:c.452dup	XP_005257115.2:p.Pro152ThrfsTer17
XM_005257059.4:c.452dup	XP_005257116.2:p.Pro152ThrfsTer17
NM_000088.4:c.452dup MANE Select	NP_000079.2:p.Pro152ThrfsTer17