Canonical Allele Identifier: CA291546898
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425593
ClinVar RCV Id: RCV000490713 RCV001542693 RCV001584199 RCV002279254
dbSNP Id: rs72645366
gnomAD v4: 17-50195641-G-A
MyVariant Identifiers: chr17:g.48273002G>A (hg19) chr17:g.50195641G>A (hg38)
PubMed: PMID:25944380
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195641G>A , CM000679.2:g.50195641G>A GRCh38
NC_000017.10:g.48273002G>A , CM000679.1:g.48273002G>A GRCh37
NC_000017.9:g.45628001G>A NCBI36
NG_007400.1:g.10999C>T , LRG_1:g.10999C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1081C>T MANE Select ENSP00000225964.6:p.Arg361Ter
ENST00000225964.9:c.1081C>T ENSP00000225964.5:p.Arg361Ter
ENST00000471344.1:n.25C>T
NM_000088.3:c.1081C>T , LRG_1t1:c.1081C>T NP_000079.2:p.Arg361Ter
XM_005257058.3:c.1081C>T XP_005257115.2:p.Arg361Ter
XM_005257059.3:c.957+673C>T XP_005257116.2:n.957+673C>T
XM_011524341.1:c.958-163C>T XP_011522643.1:n.958-163C>T
XM_005257058.4:c.1081C>T XP_005257115.2:p.Arg361Ter
XM_005257059.4:c.957+673C>T XP_005257116.2:n.957+673C>T
NM_000088.4:c.1081C>T MANE Select NP_000079.2:p.Arg361Ter
Search 100 bp 5'
Search 100 bp 3'