Canonical Allele Identifier: CA2740097887

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 3065937
• ClinVar RCV Id: RCV003989392

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188563dup , CM000679.2:g.50188563dup	GRCh38
NC_000017.10:g.48265924dup , CM000679.1:g.48265924dup	GRCh37
NC_000017.9:g.45620923dup	NCBI36
NG_007400.1:g.18079dup , LRG_1:g.18079dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3176dup MANE Select	ENSP00000225964.6:p.Ala1060CysfsTer6
ENST00000225964.9:c.3176dup	ENSP00000225964.5:p.Ala1060CysfsTer6
ENST00000511732.1:n.120dup
NM_000088.3:c.3176dup , LRG_1t1:c.3176dup	NP_000079.2:p.Ala1060CysfsTer6
XM_005257058.3:c.2906dup	XP_005257115.2:p.Ala970CysfsTer6
XM_005257059.3:c.2258dup	XP_005257116.2:p.Ala754CysfsTer6
XM_011524341.1:c.2978dup	XP_011522643.1:p.Ala994CysfsTer6
XM_005257058.4:c.2906dup	XP_005257115.2:p.Ala970CysfsTer6
XM_005257059.4:c.2258dup	XP_005257116.2:p.Ala754CysfsTer6
NM_000088.4:c.3176dup MANE Select	NP_000079.2:p.Ala1060CysfsTer6