Canonical Allele Identifier: CA10575534

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 17311
• ClinVar RCV Id: RCV000018852 ; RCV001851923
• dbSNP Id: rs72667022
• MyVariant Identifiers: chr17:g.48275794C>T (hg19) ; chr17:g.50198433C>T (hg38)
• PubMed: PMID:1867198 ; PMID:2767050 ; PMID:3082886 ; PMID:6462220

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198433C>T , CM000679.2:g.50198433C>T	GRCh38
NC_000017.10:g.48275794C>T , CM000679.1:g.48275794C>T	GRCh37
NC_000017.9:g.45630793C>T	NCBI36
NG_007400.1:g.8207G>A , LRG_1:g.8207G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.543G>A MANE Select	ENSP00000225964.6:p.Met181Ile
ENST00000225964.9:c.543G>A	ENSP00000225964.5:p.Met181Ile
ENST00000495677.1:n.270G>A
NM_000088.3:c.543G>A , LRG_1t1:c.543G>A	NP_000079.2:p.Met181Ile
XM_005257058.3:c.543G>A	XP_005257115.2:p.Met181Ile
XM_005257059.3:c.543G>A	XP_005257116.2:p.Met181Ile
XM_011524341.1:c.543G>A	XP_011522643.1:p.Met181Ile
XM_005257058.4:c.543G>A	XP_005257115.2:p.Met181Ile
XM_005257059.4:c.543G>A	XP_005257116.2:p.Met181Ile
NM_000088.4:c.543G>A MANE Select	NP_000079.2:p.Met181Ile