Canonical Allele Identifier: CA2263920343

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907805889

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198586_50198588dup , CM000679.2:g.50198586_50198588dup	GRCh38
NC_000017.10:g.48275947_48275949dup , CM000679.1:g.48275947_48275949dup	GRCh37
NC_000017.9:g.45630946_45630948dup	NCBI36
NG_007400.1:g.8055_8057dup , LRG_1:g.8055_8057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-81_472-79dup MANE Select	ENSP00000225964.6:n.472-81_472-79dup
ENST00000225964.9:c.472-81_472-79dup	ENSP00000225964.5:n.472-81_472-79dup
ENST00000495677.1:n.118_120dup
NM_000088.3:c.472-81_472-79dup , LRG_1t1:c.472-81_472-79dup	NP_000079.2:n.472-81_472-79dup
XM_005257058.3:c.472-81_472-79dup	XP_005257115.2:n.472-81_472-79dup
XM_005257059.3:c.472-81_472-79dup	XP_005257116.2:n.472-81_472-79dup
XM_011524341.1:c.472-81_472-79dup	XP_011522643.1:n.472-81_472-79dup
XM_005257058.4:c.472-81_472-79dup	XP_005257115.2:n.472-81_472-79dup
XM_005257059.4:c.472-81_472-79dup	XP_005257116.2:n.472-81_472-79dup
NM_000088.4:c.472-81_472-79dup MANE Select	NP_000079.2:n.472-81_472-79dup