Canonical Allele Identifier: CA257866

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17312
• ClinVar RCV Id: RCV000018853 ; RCV000029586 ; RCV000480634 ; RCV000490676 ; RCV000692051 ; RCV000763413 ; RCV004549377
• dbSNP Id: rs72645357
• MyVariant Identifiers: chr17:g.48273524C>T (hg19) ; chr17:g.50196163C>T (hg38)
• PubMed: PMID:2037280 ; PMID:8669434 ; PMID:25944380

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196163C>T , CM000679.2:g.50196163C>T	GRCh38
NC_000017.10:g.48273524C>T , CM000679.1:g.48273524C>T	GRCh37
NC_000017.9:g.45628523C>T	NCBI36
NG_007400.1:g.10477G>A , LRG_1:g.10477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.994G>A MANE Select	ENSP00000225964.6:p.Gly332Arg
ENST00000225964.9:c.994G>A	ENSP00000225964.5:p.Gly332Arg
ENST00000485870.1:n.319G>A
NM_000088.3:c.994G>A , LRG_1t1:c.994G>A	NP_000079.2:p.Gly332Arg
XM_005257058.3:c.994G>A	XP_005257115.2:p.Gly332Arg
XM_005257059.3:c.957+151G>A	XP_005257116.2:n.957+151G>A
XM_011524341.1:c.957+151G>A	XP_011522643.1:n.957+151G>A
XM_005257058.4:c.994G>A	XP_005257115.2:p.Gly332Arg
XM_005257059.4:c.957+151G>A	XP_005257116.2:n.957+151G>A
NM_000088.4:c.994G>A MANE Select	NP_000079.2:p.Gly332Arg