Canonical Allele Identifier: CA2263913667

Gene: COL1A1

Linked Data

• dbSNP Id: rs1906413308

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185492_50185495dup , CM000679.2:g.50185492_50185495dup	GRCh38
NC_000017.10:g.48262853_48262856dup , CM000679.1:g.48262853_48262856dup	GRCh37
NC_000017.9:g.45617852_45617855dup	NCBI36
NG_007400.1:g.21148_21151dup , LRG_1:g.21148_21151dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*10_*13dup MANE Select	ENSP00000225964.6:n.*10_*13dup
ENST00000225964.9:c.*10_*13dup	ENSP00000225964.5:n.*10_*13dup
NM_000088.3:c.*10_*13dup , LRG_1t1:c.*10_*13dup	NP_000079.2:n.*10_*13dup
XM_005257058.3:c.*10_*13dup	XP_005257115.2:n.*10_*13dup
XM_005257059.3:c.*10_*13dup	XP_005257116.2:n.*10_*13dup
XM_011524341.1:c.*10_*13dup	XP_011522643.1:n.*10_*13dup
XM_005257058.4:c.*10_*13dup	XP_005257115.2:n.*10_*13dup
XM_005257059.4:c.*10_*13dup	XP_005257116.2:n.*10_*13dup
NM_000088.4:c.*10_*13dup MANE Select	NP_000079.2:n.*10_*13dup