Canonical Allele Identifier: CA260320

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 35925
• ClinVar RCV Id: RCV000029580 ; RCV000490677 ; RCV000627432 ; RCV001526512
• dbSNP Id: rs72667023
• gnomAD v4: 17-50198169-CA-C
• MyVariant Identifiers: chr17:g.48275531del (hg19) ; chr17:g.50198170del (hg38)
• PubMed: PMID:16879195 ; PMID:19358256 ; PMID:25944380

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198170del , CM000679.2:g.50198170del	GRCh38
NC_000017.10:g.48275531del , CM000679.1:g.48275531del	GRCh37
NC_000017.9:g.45630530del	NCBI36
NG_007400.1:g.8470del , LRG_1:g.8470del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.579del MANE Select	ENSP00000225964.6:p.Gly194ValfsTer?
ENST00000225964.9:c.579del	ENSP00000225964.5:p.Gly194ValfsTer?
ENST00000495677.1:n.306del
NM_000088.3:c.579del , LRG_1t1:c.579del	NP_000079.2:p.Gly194ValfsTer?
XM_005257058.3:c.579del	XP_005257115.2:p.Gly194ValfsTer?
XM_005257059.3:c.579del	XP_005257116.2:p.Gly194ValfsTer?
XM_011524341.1:c.579del	XP_011522643.1:p.Gly194ValfsTer?
XM_005257058.4:c.579del	XP_005257115.2:p.Gly194ValfsTer?
XM_005257059.4:c.579del	XP_005257116.2:p.Gly194ValfsTer?
NM_000088.4:c.579del MANE Select	NP_000079.2:p.Gly194ValfsTer?