Canonical Allele Identifier: CA2263918060

Gene: COL1A1

Linked Data

• dbSNP Id: rs1907355103

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194188_50194189dup , CM000679.2:g.50194188_50194189dup	GRCh38
NC_000017.10:g.48271549_48271550dup , CM000679.1:g.48271549_48271550dup	GRCh37
NC_000017.9:g.45626548_45626549dup	NCBI36
NG_007400.1:g.12452_12453dup , LRG_1:g.12452_12453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1615-5_1615-4dup MANE Select	ENSP00000225964.6:n.1615-5_1615-4dup
ENST00000225964.9:c.1615-5_1615-4dup	ENSP00000225964.5:n.1615-5_1615-4dup
ENST00000463440.1:n.5-5_5-4dup
ENST00000471344.1:n.559-5_559-4dup
NM_000088.3:c.1615-5_1615-4dup , LRG_1t1:c.1615-5_1615-4dup	NP_000079.2:n.1615-5_1615-4dup
XM_005257058.3:c.1615-5_1615-4dup	XP_005257115.2:n.1615-5_1615-4dup
XM_005257059.3:c.958-1495_958-1494dup	XP_005257116.2:n.958-1495_958-1494dup
XM_011524341.1:c.1417-5_1417-4dup	XP_011522643.1:n.1417-5_1417-4dup
XM_005257058.4:c.1615-5_1615-4dup	XP_005257115.2:n.1615-5_1615-4dup
XM_005257059.4:c.958-1495_958-1494dup	XP_005257116.2:n.958-1495_958-1494dup
NM_000088.4:c.1615-5_1615-4dup MANE Select	NP_000079.2:n.1615-5_1615-4dup