Canonical Allele Identifier: CA2733839881

Gene: COL1A1

Linked Data

• dbSNP Id: rs2144581829

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196626dup , CM000679.2:g.50196626dup	GRCh38
NC_000017.10:g.48273987dup , CM000679.1:g.48273987dup	GRCh37
NC_000017.9:g.45628986dup	NCBI36
NG_007400.1:g.10014dup , LRG_1:g.10014dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.849dup MANE Select	ENSP00000225964.6:p.Gly284TrpfsTer3
ENST00000225964.9:c.849dup	ENSP00000225964.5:p.Gly284TrpfsTer3
ENST00000495677.1:n.576dup
NM_000088.3:c.849dup , LRG_1t1:c.849dup	NP_000079.2:p.Gly284TrpfsTer3
XM_005257058.3:c.849dup	XP_005257115.2:p.Gly284TrpfsTer3
XM_005257059.3:c.849dup	XP_005257116.2:p.Gly284TrpfsTer3
XM_011524341.1:c.849dup	XP_011522643.1:p.Gly284TrpfsTer3
XM_005257058.4:c.849dup	XP_005257115.2:p.Gly284TrpfsTer3
XM_005257059.4:c.849dup	XP_005257116.2:p.Gly284TrpfsTer3
NM_000088.4:c.849dup MANE Select	NP_000079.2:p.Gly284TrpfsTer3