Canonical Allele Identifier: CA281092
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17337
ClinVar RCV Id: RCV000018878 RCV000582506 RCV000599479
dbSNP Id: rs72656314
gnomAD v3: 17-50187486-G-A
gnomAD v4: 17-50187486-G-A
COSMIC: COSM1679904
MyVariant Identifiers: chr17:g.48264847G>A (hg19) chr17:g.50187486G>A (hg38)
PubMed: PMID:7942841 PMID:9067755
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50187486G>A , CM000679.2:g.50187486G>A GRCh38
NC_000017.10:g.48264847G>A , CM000679.1:g.48264847G>A GRCh37
NC_000017.9:g.45619846G>A NCBI36
NG_007400.1:g.19154C>T , LRG_1:g.19154C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.3421C>T MANE Select ENSP00000225964.6:p.Arg1141Ter
ENST00000225964.9:c.3421C>T ENSP00000225964.5:p.Arg1141Ter
NM_000088.3:c.3421C>T , LRG_1t1:c.3421C>T NP_000079.2:p.Arg1141Ter
XM_005257058.3:c.3151C>T XP_005257115.2:p.Arg1051Ter
XM_005257059.3:c.2503C>T XP_005257116.2:p.Arg835Ter
XM_011524341.1:c.3223C>T XP_011522643.1:p.Arg1075Ter
XM_005257058.4:c.3151C>T XP_005257115.2:p.Arg1051Ter
XM_005257059.4:c.2503C>T XP_005257116.2:p.Arg835Ter
NM_000088.4:c.3421C>T MANE Select NP_000079.2:p.Arg1141Ter
Search 100 bp 5'
Search 100 bp 3'