Canonical Allele Identifier: CA291546646

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 425597
• ClinVar RCV Id: RCV000490754 ; RCV000516899 ; RCV001262344 ; RCV002475959 ; RCV003313958
• dbSNP Id: rs72648326
• gnomAD v4: 17-50195288-G-A
• MyVariant Identifiers: chr17:g.48272649G>A (hg19) ; chr17:g.50195288G>A (hg38)
• PubMed: PMID:8613526 ; PMID:8808594 ; PMID:15024745 ; PMID:15741671 ; PMID:25944380 ; PMID:27132807 ; PMID:27748872

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195288G>A , CM000679.2:g.50195288G>A	GRCh38
NC_000017.10:g.48272649G>A , CM000679.1:g.48272649G>A	GRCh37
NC_000017.9:g.45627648G>A	NCBI36
NG_007400.1:g.11352C>T , LRG_1:g.11352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1243C>T MANE Select	ENSP00000225964.6:p.Arg415Ter
ENST00000225964.9:c.1243C>T	ENSP00000225964.5:p.Arg415Ter
ENST00000471344.1:n.187C>T
NM_000088.3:c.1243C>T , LRG_1t1:c.1243C>T	NP_000079.2:p.Arg415Ter
XM_005257058.3:c.1243C>T	XP_005257115.2:p.Arg415Ter
XM_005257059.3:c.957+1026C>T	XP_005257116.2:n.957+1026C>T
XM_011524341.1:c.1045C>T	XP_011522643.1:p.Arg349Ter
XM_005257058.4:c.1243C>T	XP_005257115.2:p.Arg415Ter
XM_005257059.4:c.957+1026C>T	XP_005257116.2:n.957+1026C>T
NM_000088.4:c.1243C>T MANE Select	NP_000079.2:p.Arg415Ter