Canonical Allele Identifier: CA645294110

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 425582
• ClinVar RCV Id: RCV000490698
• dbSNP Id: rs1114167377
• gnomAD v4: 17-50194802-AG-A
• MyVariant Identifiers: chr17:g.48272164del (hg19) ; chr17:g.50194803del (hg38)
• PubMed: PMID:25944380

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194807del , CM000679.2:g.50194807del	GRCh38
NC_000017.10:g.48272168del , CM000679.1:g.48272168del	GRCh37
NC_000017.9:g.45627167del	NCBI36
NG_007400.1:g.11837del , LRG_1:g.11837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1379del MANE Select	ENSP00000225964.6:p.Pro460LeufsTer?
ENST00000225964.9:c.1379del	ENSP00000225964.5:p.Pro460LeufsTer?
ENST00000471344.1:n.323del
NM_000088.3:c.1379del , LRG_1t1:c.1379del	NP_000079.2:p.Pro460LeufsTer?
XM_005257058.3:c.1379del	XP_005257115.2:p.Pro460LeufsTer?
XM_005257059.3:c.957+1511del	XP_005257116.2:n.957+1511del
XM_011524341.1:c.1181del	XP_011522643.1:p.Pro394LeufsTer?
XM_005257058.4:c.1379del	XP_005257115.2:p.Pro460LeufsTer?
XM_005257059.4:c.957+1511del	XP_005257116.2:n.957+1511del
NM_000088.4:c.1379del MANE Select	NP_000079.2:p.Pro460LeufsTer?