Canonical Allele Identifier: CA919856722

Gene: COL1A1

Linked Data

• dbSNP Id: rs1598298718

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196687_50196690dup , CM000679.2:g.50196687_50196690dup	GRCh38
NC_000017.10:g.48274048_48274051dup , CM000679.1:g.48274048_48274051dup	GRCh37
NC_000017.9:g.45629047_45629050dup	NCBI36
NG_007400.1:g.9952_9955dup , LRG_1:g.9952_9955dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.805-18_805-15dup MANE Select	ENSP00000225964.6:n.805-18_805-15dup
ENST00000225964.9:c.805-18_805-15dup	ENSP00000225964.5:n.805-18_805-15dup
ENST00000495677.1:n.532-18_532-15dup
NM_000088.3:c.805-18_805-15dup , LRG_1t1:c.805-18_805-15dup	NP_000079.2:n.805-18_805-15dup
XM_005257058.3:c.805-18_805-15dup	XP_005257115.2:n.805-18_805-15dup
XM_005257059.3:c.805-18_805-15dup	XP_005257116.2:n.805-18_805-15dup
XM_011524341.1:c.805-18_805-15dup	XP_011522643.1:n.805-18_805-15dup
XM_005257058.4:c.805-18_805-15dup	XP_005257115.2:n.805-18_805-15dup
XM_005257059.4:c.805-18_805-15dup	XP_005257116.2:n.805-18_805-15dup
NM_000088.4:c.805-18_805-15dup MANE Select	NP_000079.2:n.805-18_805-15dup