Canonical Allele Identifier: CA2580094145

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2032980
• ClinVar RCV Id: RCV002885085

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195955_50195956dup , CM000679.2:g.50195955_50195956dup	GRCh38
NC_000017.10:g.48273316_48273317dup , CM000679.1:g.48273316_48273317dup	GRCh37
NC_000017.9:g.45628315_45628316dup	NCBI36
NG_007400.1:g.10684_10685dup , LRG_1:g.10684_10685dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1023_1024dup MANE Select	ENSP00000225964.6:p.Pro342LeufsTer?
ENST00000225964.9:c.1023_1024dup	ENSP00000225964.5:p.Pro342LeufsTer?
NM_000088.3:c.1023_1024dup , LRG_1t1:c.1023_1024dup	NP_000079.2:p.Pro342LeufsTer?
XM_005257058.3:c.1023_1024dup	XP_005257115.2:p.Pro342LeufsTer?
XM_005257059.3:c.957+358_957+359dup	XP_005257116.2:n.957+358_957+359dup
XM_011524341.1:c.957+358_957+359dup	XP_011522643.1:n.957+358_957+359dup
XM_005257058.4:c.1023_1024dup	XP_005257115.2:p.Pro342LeufsTer?
XM_005257059.4:c.957+358_957+359dup	XP_005257116.2:n.957+358_957+359dup
NM_000088.4:c.1023_1024dup MANE Select	NP_000079.2:p.Pro342LeufsTer?