Canonical Allele Identifier: CA626486289

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2184444
• ClinVar RCV Id: RCV002603300
• dbSNP Id: rs1316733884
• gnomAD v2: 17-48276705-C-T
• gnomAD v4: 17-50199344-C-T
• COSMIC: COSN20042519
• MyVariant Identifiers: chr17:g.48276705C>T (hg19) ; chr17:g.50199344C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199344C>T , CM000679.2:g.50199344C>T	GRCh38
NC_000017.10:g.48276705C>T , CM000679.1:g.48276705C>T	GRCh37
NC_000017.9:g.45631704C>T	NCBI36
NG_007400.1:g.7296G>A , LRG_1:g.7296G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.370-17G>A MANE Select	ENSP00000225964.6:n.370-17G>A
ENST00000225964.9:c.370-17G>A	ENSP00000225964.5:n.370-17G>A
ENST00000474644.1:n.591-17G>A
ENST00000507689.1:c.424-17G>A	ENSP00000460459.1:n.424-17G>A
NM_000088.3:c.370-17G>A , LRG_1t1:c.370-17G>A	NP_000079.2:n.370-17G>A
XM_005257058.3:c.370-17G>A	XP_005257115.2:n.370-17G>A
XM_005257059.3:c.370-17G>A	XP_005257116.2:n.370-17G>A
XM_011524341.1:c.370-17G>A	XP_011522643.1:n.370-17G>A
XM_005257058.4:c.370-17G>A	XP_005257115.2:n.370-17G>A
XM_005257059.4:c.370-17G>A	XP_005257116.2:n.370-17G>A
NM_000088.4:c.370-17G>A MANE Select	NP_000079.2:n.370-17G>A