Canonical Allele Identifier: CA500844346

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2141191
• ClinVar RCV Id: RCV003056832
• gnomAD v4: 17-50188132-G-T
• MyVariant Identifiers: chr17:g.48265493G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188132G>T , CM000679.2:g.50188132G>T	GRCh38
NC_000017.10:g.48265493G>T , CM000679.1:g.48265493G>T	GRCh37
NC_000017.9:g.45620492G>T	NCBI36
NG_007400.1:g.18508C>A , LRG_1:g.18508C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3225C>A MANE Select	ENSP00000225964.6:p.Ala1075=
ENST00000225964.9:c.3225C>A	ENSP00000225964.5:p.Ala1075=
ENST00000486572.1:n.423C>A
ENST00000511732.1:n.549C>A
NM_000088.3:c.3225C>A , LRG_1t1:c.3225C>A	NP_000079.2:p.Ala1075=
XM_005257058.3:c.2955C>A	XP_005257115.2:p.Ala985=
XM_005257059.3:c.2307C>A	XP_005257116.2:p.Ala769=
XM_011524341.1:c.3027C>A	XP_011522643.1:p.Ala1009=
XM_005257058.4:c.2955C>A	XP_005257115.2:p.Ala985=
XM_005257059.4:c.2307C>A	XP_005257116.2:p.Ala769=
NM_000088.4:c.3225C>A MANE Select	NP_000079.2:p.Ala1075=