Canonical Allele Identifier: CA291544536
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425580
ClinVar RCV Id: RCV000490727 RCV000599354 RCV000763410 RCV002221545 RCV004551601
dbSNP Id: rs66555264
COSMIC: COSM4673642
MyVariant Identifiers: chr17:g.48270354C>T (hg19) chr17:g.50192993C>T (hg38)
PubMed: PMID:25944380
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50192993C>T , CM000679.2:g.50192993C>T GRCh38
NC_000017.10:g.48270354C>T , CM000679.1:g.48270354C>T GRCh37
NC_000017.9:g.45625353C>T NCBI36
NG_007400.1:g.13647G>A , LRG_1:g.13647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1821+1G>A MANE Select ENSP00000225964.6:n.1821+1G>A
ENST00000225964.9:c.1821+1G>A ENSP00000225964.5:n.1821+1G>A
ENST00000476387.1:n.170+1G>A
NM_000088.3:c.1821+1G>A , LRG_1t1:c.1821+1G>A NP_000079.2:n.1821+1G>A
XM_005257058.3:c.1821+1G>A XP_005257115.2:n.1821+1G>A
XM_005257059.3:c.958-300G>A XP_005257116.2:n.958-300G>A
XM_011524341.1:c.1623+1G>A XP_011522643.1:n.1623+1G>A
XM_005257058.4:c.1821+1G>A XP_005257115.2:n.1821+1G>A
XM_005257059.4:c.958-300G>A XP_005257116.2:n.958-300G>A
NM_000088.4:c.1821+1G>A MANE Select NP_000079.2:n.1821+1G>A
Search 100 bp 5'
Search 100 bp 3'