Canonical Allele Identifier: CA2695226652

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2755579
• ClinVar RCV Id: RCV003516996

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194719dup , CM000679.2:g.50194719dup	GRCh38
NC_000017.10:g.48272080dup , CM000679.1:g.48272080dup	GRCh37
NC_000017.9:g.45627079dup	NCBI36
NG_007400.1:g.11921dup , LRG_1:g.11921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1461+2dup MANE Select	ENSP00000225964.6:n.1461+2dup
ENST00000225964.9:c.1461+2dup	ENSP00000225964.5:n.1461+2dup
ENST00000471344.1:n.405+2dup
NM_000088.3:c.1461+2dup , LRG_1t1:c.1461+2dup	NP_000079.2:n.1461+2dup
XM_005257058.3:c.1461+2dup	XP_005257115.2:n.1461+2dup
XM_005257059.3:c.957+1595dup	XP_005257116.2:n.957+1595dup
XM_011524341.1:c.1263+2dup	XP_011522643.1:n.1263+2dup
XM_005257058.4:c.1461+2dup	XP_005257115.2:n.1461+2dup
XM_005257059.4:c.957+1595dup	XP_005257116.2:n.957+1595dup
NM_000088.4:c.1461+2dup MANE Select	NP_000079.2:n.1461+2dup