Canonical Allele Identifier: CA8645709

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 807388
• ClinVar RCV Id: RCV000995512 ; RCV003326528
• dbSNP Id: rs72667014
• ExAC: 17:48276671 AG / A
• gnomAD v2: 17-48276671-AG-A
• gnomAD v4: 17-50199310-AG-A
• MyVariant Identifiers: chr17:g.48276672del (hg19) ; chr17:g.50199311del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199316del , CM000679.2:g.50199316del	GRCh38
NC_000017.10:g.48276677del , CM000679.1:g.48276677del	GRCh37
NC_000017.9:g.45631676del	NCBI36
NG_007400.1:g.7329del , LRG_1:g.7329del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.386del MANE Select	ENSP00000225964.6:p.Pro129LeufsTer?
ENST00000225964.9:c.386del	ENSP00000225964.5:p.Pro129LeufsTer?
ENST00000474644.1:n.607del
ENST00000507689.1:c.440del	ENSP00000460459.1:p.Pro147LeufsTer?
NM_000088.3:c.386del , LRG_1t1:c.386del	NP_000079.2:p.Pro129LeufsTer?
XM_005257058.3:c.386del	XP_005257115.2:p.Pro129LeufsTer?
XM_005257059.3:c.386del	XP_005257116.2:p.Pro129LeufsTer?
XM_011524341.1:c.386del	XP_011522643.1:p.Pro129LeufsTer?
XM_005257058.4:c.386del	XP_005257115.2:p.Pro129LeufsTer?
XM_005257059.4:c.386del	XP_005257116.2:p.Pro129LeufsTer?
NM_000088.4:c.386del MANE Select	NP_000079.2:p.Pro129LeufsTer?