Canonical Allele Identifier: CA2733841721

Gene: COL1A1

Linked Data

• dbSNP Id: rs2144553981

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190234_50190235dup , CM000679.2:g.50190234_50190235dup	GRCh38
NC_000017.10:g.48267595_48267596dup , CM000679.1:g.48267595_48267596dup	GRCh37
NC_000017.9:g.45622594_45622595dup	NCBI36
NG_007400.1:g.16407_16408dup , LRG_1:g.16407_16408dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.2451+94_2451+95dup MANE Select	ENSP00000225964.6:n.2451+94_2451+95dup
ENST00000225964.9:c.2451+94_2451+95dup	ENSP00000225964.5:n.2451+94_2451+95dup
NM_000088.3:c.2451+94_2451+95dup , LRG_1t1:c.2451+94_2451+95dup	NP_000079.2:n.2451+94_2451+95dup
XM_005257058.3:c.2451+94_2451+95dup	XP_005257115.2:n.2451+94_2451+95dup
XM_005257059.3:c.1533+94_1533+95dup	XP_005257116.2:n.1533+94_1533+95dup
XM_011524341.1:c.2253+94_2253+95dup	XP_011522643.1:n.2253+94_2253+95dup
XM_005257058.4:c.2451+94_2451+95dup	XP_005257115.2:n.2451+94_2451+95dup
XM_005257059.4:c.1533+94_1533+95dup	XP_005257116.2:n.1533+94_1533+95dup
NM_000088.4:c.2451+94_2451+95dup MANE Select	NP_000079.2:n.2451+94_2451+95dup