Canonical Allele Identifier: CA658798900

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 526857
• ClinVar RCV Id: RCV000631483
• dbSNP Id: rs1555574319
• MyVariant Identifiers: chr17:g.48273556dup (hg19) ; chr17:g.50196195dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196195dup , CM000679.2:g.50196195dup	GRCh38
NC_000017.10:g.48273556dup , CM000679.1:g.48273556dup	GRCh37
NC_000017.9:g.45628555dup	NCBI36
NG_007400.1:g.10445dup , LRG_1:g.10445dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.962dup MANE Select	ENSP00000225964.6:p.Arg322SerfsTer4
ENST00000225964.9:c.962dup	ENSP00000225964.5:p.Arg322SerfsTer4
ENST00000485870.1:n.287dup
NM_000088.3:c.962dup , LRG_1t1:c.962dup	NP_000079.2:p.Arg322SerfsTer4
XM_005257058.3:c.962dup	XP_005257115.2:p.Arg322SerfsTer4
XM_005257059.3:c.957+119dup	XP_005257116.2:n.957+119dup
XM_011524341.1:c.957+119dup	XP_011522643.1:n.957+119dup
XM_005257058.4:c.962dup	XP_005257115.2:p.Arg322SerfsTer4
XM_005257059.4:c.957+119dup	XP_005257116.2:n.957+119dup
NM_000088.4:c.962dup MANE Select	NP_000079.2:p.Arg322SerfsTer4