Canonical Allele Identifier: CA2573154186

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1391888
• ClinVar RCV Id: RCV001893320
• dbSNP Id: rs2144573120

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194755_50194756dup , CM000679.2:g.50194755_50194756dup	GRCh38
NC_000017.10:g.48272116_48272117dup , CM000679.1:g.48272116_48272117dup	GRCh37
NC_000017.9:g.45627115_45627116dup	NCBI36
NG_007400.1:g.11884_11885dup , LRG_1:g.11884_11885dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1426_1427dup MANE Select	ENSP00000225964.6:p.Pro477AspfsTer?
ENST00000225964.9:c.1426_1427dup	ENSP00000225964.5:p.Pro477AspfsTer?
ENST00000471344.1:n.370_371dup
NM_000088.3:c.1426_1427dup , LRG_1t1:c.1426_1427dup	NP_000079.2:p.Pro477AspfsTer?
XM_005257058.3:c.1426_1427dup	XP_005257115.2:p.Pro477AspfsTer?
XM_005257059.3:c.957+1558_957+1559dup	XP_005257116.2:n.957+1558_957+1559dup
XM_011524341.1:c.1228_1229dup	XP_011522643.1:p.Pro411AspfsTer?
XM_005257058.4:c.1426_1427dup	XP_005257115.2:p.Pro477AspfsTer?
XM_005257059.4:c.957+1558_957+1559dup	XP_005257116.2:n.957+1558_957+1559dup
NM_000088.4:c.1426_1427dup MANE Select	NP_000079.2:p.Pro477AspfsTer?