Canonical Allele Identifier: CA500844379

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188536-A-T
• MyVariant Identifiers: chr17:g.48265897A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188536A>T , CM000679.2:g.50188536A>T	GRCh38
NC_000017.10:g.48265897A>T , CM000679.1:g.48265897A>T	GRCh37
NC_000017.9:g.45620896A>T	NCBI36
NG_007400.1:g.18104T>A , LRG_1:g.18104T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3201T>A MANE Select	ENSP00000225964.6:p.Gly1067=
ENST00000225964.9:c.3201T>A	ENSP00000225964.5:p.Gly1067=
ENST00000486572.1:n.19T>A
ENST00000511732.1:n.145T>A
NM_000088.3:c.3201T>A , LRG_1t1:c.3201T>A	NP_000079.2:p.Gly1067=
XM_005257058.3:c.2931T>A	XP_005257115.2:p.Gly977=
XM_005257059.3:c.2283T>A	XP_005257116.2:p.Gly761=
XM_011524341.1:c.3003T>A	XP_011522643.1:p.Gly1001=
XM_005257058.4:c.2931T>A	XP_005257115.2:p.Gly977=
XM_005257059.4:c.2283T>A	XP_005257116.2:p.Gly761=
NM_000088.4:c.3201T>A MANE Select	NP_000079.2:p.Gly1067=