Canonical Allele Identifier: CA2573054487

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1333640
• ClinVar RCV Id: RCV001808856
• dbSNP Id: rs2144577608

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195627_50195644dup , CM000679.2:g.50195627_50195644dup	GRCh38
NC_000017.10:g.48272988_48273005dup , CM000679.1:g.48272988_48273005dup	GRCh37
NC_000017.9:g.45627987_45628004dup	NCBI36
NG_007400.1:g.11000_11017dup , LRG_1:g.11000_11017dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1082_1099dup MANE Select	ENSP00000225964.6:p.Pro366_Gln367insArgGlySerGluGlyPro
ENST00000225964.9:c.1082_1099dup	ENSP00000225964.5:p.Pro366_Gln367insArgGlySerGluGlyPro
ENST00000471344.1:n.26_43dup
NM_000088.3:c.1082_1099dup , LRG_1t1:c.1082_1099dup	NP_000079.2:p.Pro366_Gln367insArgGlySerGluGlyPro
XM_005257058.3:c.1082_1099dup	XP_005257115.2:p.Pro366_Gln367insArgGlySerGluGlyPro
XM_005257059.3:c.957+674_957+691dup	XP_005257116.2:n.957+674_957+691dup
XM_011524341.1:c.958-162_958-145dup	XP_011522643.1:n.958-162_958-145dup
XM_005257058.4:c.1082_1099dup	XP_005257115.2:p.Pro366_Gln367insArgGlySerGluGlyPro
XM_005257059.4:c.957+674_957+691dup	XP_005257116.2:n.957+674_957+691dup
NM_000088.4:c.1082_1099dup MANE Select	NP_000079.2:p.Pro366_Gln367insArgGlySerGluGlyPro