Canonical Allele Identifier: CA8645249

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 509588
• ClinVar RCV Id: RCV000612179 ; RCV001124764 ; RCV001124765 ; RCV001121994 ; RCV001701056 ; RCV002063266
• dbSNP Id: rs371161009
• ExAC: 17:48272069 C / A
• gnomAD v2: 17-48272069-C-A
• gnomAD v3: 17-50194708-C-A
• gnomAD v4: 17-50194708-C-A
• MyVariant Identifiers: chr17:g.48272069C>A (hg19) ; chr17:g.50194708C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194708C>A , CM000679.2:g.50194708C>A	GRCh38
NC_000017.10:g.48272069C>A , CM000679.1:g.48272069C>A	GRCh37
NC_000017.9:g.45627068C>A	NCBI36
NG_007400.1:g.11932G>T , LRG_1:g.11932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1461+13G>T MANE Select	ENSP00000225964.6:n.1461+13G>T
ENST00000225964.9:c.1461+13G>T	ENSP00000225964.5:n.1461+13G>T
ENST00000471344.1:n.405+13G>T
NM_000088.3:c.1461+13G>T , LRG_1t1:c.1461+13G>T	NP_000079.2:n.1461+13G>T
XM_005257058.3:c.1461+13G>T	XP_005257115.2:n.1461+13G>T
XM_005257059.3:c.957+1606G>T	XP_005257116.2:n.957+1606G>T
XM_011524341.1:c.1263+13G>T	XP_011522643.1:n.1263+13G>T
XM_005257058.4:c.1461+13G>T	XP_005257115.2:n.1461+13G>T
XM_005257059.4:c.957+1606G>T	XP_005257116.2:n.957+1606G>T
NM_000088.4:c.1461+13G>T MANE Select	NP_000079.2:n.1461+13G>T