Canonical Allele Identifier: CA8644332

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324098
• ClinVar RCV Id: RCV000292780 ; RCV000351084 ; RCV000387080 ; RCV000827217 ; RCV002056611
• dbSNP Id: rs201066018
• ExAC: 17:48263880 C / A
• gnomAD v2: 17-48263880-C-A
• gnomAD v3: 17-50186519-C-A
• gnomAD v4: 17-50186519-C-A
• MyVariant Identifiers: chr17:g.48263880C>A (hg19) ; chr17:g.50186519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186519C>A , CM000679.2:g.50186519C>A	GRCh38
NC_000017.10:g.48263880C>A , CM000679.1:g.48263880C>A	GRCh37
NC_000017.9:g.45618879C>A	NCBI36
NG_007400.1:g.20121G>T , LRG_1:g.20121G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3815-12G>T MANE Select	ENSP00000225964.6:n.3815-12G>T
ENST00000225964.9:c.3815-12G>T	ENSP00000225964.5:n.3815-12G>T
ENST00000510710.3:n.484-12G>T
NM_000088.3:c.3815-12G>T , LRG_1t1:c.3815-12G>T	NP_000079.2:n.3815-12G>T
XM_005257058.3:c.3545-12G>T	XP_005257115.2:n.3545-12G>T
XM_005257059.3:c.2897-12G>T	XP_005257116.2:n.2897-12G>T
XM_011524341.1:c.3617-12G>T	XP_011522643.1:n.3617-12G>T
XM_005257058.4:c.3545-12G>T	XP_005257115.2:n.3545-12G>T
XM_005257059.4:c.2897-12G>T	XP_005257116.2:n.2897-12G>T
NM_000088.4:c.3815-12G>T MANE Select	NP_000079.2:n.3815-12G>T