Canonical Allele Identifier: CA291543187

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 523942
• ClinVar RCV Id: RCV000627425 ; RCV000689473
• dbSNP Id: rs72653155
• MyVariant Identifiers: chr17:g.48266783del (hg19) ; chr17:g.50189422del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50189422del , CM000679.2:g.50189422del	GRCh38
NC_000017.10:g.48266783del , CM000679.1:g.48266783del	GRCh37
NC_000017.9:g.45621782del	NCBI36
NG_007400.1:g.17218del , LRG_1:g.17218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2784del MANE Select	ENSP00000225964.6:p.Gly929AlafsTer?
ENST00000225964.9:c.2784del	ENSP00000225964.5:p.Gly929AlafsTer?
NM_000088.3:c.2784del , LRG_1t1:c.2784del	NP_000079.2:p.Gly929AlafsTer?
XM_005257058.3:c.2667+257del	XP_005257115.2:n.2667+257del
XM_005257059.3:c.1866del	XP_005257116.2:p.Gly623AlafsTer?
XM_011524341.1:c.2586del	XP_011522643.1:p.Gly863AlafsTer?
XM_005257058.4:c.2667+257del	XP_005257115.2:n.2667+257del
XM_005257059.4:c.1866del	XP_005257116.2:p.Gly623AlafsTer?
NM_000088.4:c.2784del MANE Select	NP_000079.2:p.Gly929AlafsTer?