Canonical Allele Identifier: CA281095
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17343
ClinVar RCV Id: RCV000018884 RCV000415259 RCV000631472 RCV002276563 RCV002496407 RCV003225023 RCV001198512
dbSNP Id: rs72645347
gnomAD v4: 17-50196337-G-A
COSMIC: COSM1679907
MyVariant Identifiers: chr17:g.48273698G>A (hg19) chr17:g.50196337G>A (hg38)
PubMed: PMID:10739762
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196337G>A , CM000679.2:g.50196337G>A GRCh38
NC_000017.10:g.48273698G>A , CM000679.1:g.48273698G>A GRCh37
NC_000017.9:g.45628697G>A NCBI36
NG_007400.1:g.10303C>T , LRG_1:g.10303C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.934C>T MANE Select ENSP00000225964.6:p.Arg312Cys
ENST00000225964.9:c.934C>T ENSP00000225964.5:p.Arg312Cys
ENST00000485870.1:n.259C>T
NM_000088.3:c.934C>T , LRG_1t1:c.934C>T NP_000079.2:p.Arg312Cys
XM_005257058.3:c.934C>T XP_005257115.2:p.Arg312Cys
XM_005257059.3:c.934C>T XP_005257116.2:p.Arg312Cys
XM_011524341.1:c.934C>T XP_011522643.1:p.Arg312Cys
XM_005257058.4:c.934C>T XP_005257115.2:p.Arg312Cys
XM_005257059.4:c.934C>T XP_005257116.2:p.Arg312Cys
NM_000088.4:c.934C>T MANE Select NP_000079.2:p.Arg312Cys
Search 100 bp 5'
Search 100 bp 3'