Canonical Allele Identifier: CA8644578

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324105
• ClinVar RCV Id: RCV000291739 ; RCV000346597 ; RCV000399463 ; RCV000444155 ; RCV000527323 ; RCV000659356 ; RCV001087478 ; RCV002278492
• dbSNP Id: rs201682029
• ExAC: 17:48266096 A / G
• gnomAD v2: 17-48266096-A-G
• gnomAD v3: 17-50188735-A-G
• gnomAD v4: 17-50188735-A-G
• MyVariant Identifiers: chr17:g.48266096A>G (hg19) ; chr17:g.50188735A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188735A>G , CM000679.2:g.50188735A>G	GRCh38
NC_000017.10:g.48266096A>G , CM000679.1:g.48266096A>G	GRCh37
NC_000017.9:g.45621095A>G	NCBI36
NG_007400.1:g.17905T>C , LRG_1:g.17905T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3099+7T>C MANE Select	ENSP00000225964.6:n.3099+7T>C
ENST00000225964.9:c.3099+7T>C	ENSP00000225964.5:n.3099+7T>C
ENST00000511732.1:n.43+7T>C
NM_000088.3:c.3099+7T>C , LRG_1t1:c.3099+7T>C	NP_000079.2:n.3099+7T>C
XM_005257058.3:c.2829+7T>C	XP_005257115.2:n.2829+7T>C
XM_005257059.3:c.2181+7T>C	XP_005257116.2:n.2181+7T>C
XM_011524341.1:c.2901+7T>C	XP_011522643.1:n.2901+7T>C
XM_005257058.4:c.2829+7T>C	XP_005257115.2:n.2829+7T>C
XM_005257059.4:c.2181+7T>C	XP_005257116.2:n.2181+7T>C
NM_000088.4:c.3099+7T>C MANE Select	NP_000079.2:n.3099+7T>C