Canonical Allele Identifier: CA8645403
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1646552
ClinVar RCV Id: RCV002136552
dbSNP Id: rs73338527
ExAC: 17:48273046 A / G
gnomAD v2: 17-48273046-A-G
gnomAD v3: 17-50195685-A-G
gnomAD v4: 17-50195685-A-G
MyVariant Identifiers: chr17:g.48273046A>G (hg19) chr17:g.48273046_48273084delinsGTATCAGAAGCCACCCTGGGAAACCCAACCTTGCCTCTC (hg19) chr17:g.50195685A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195685A>G , CM000679.2:g.50195685A>G GRCh38
NC_000017.10:g.48273046A>G , CM000679.1:g.48273046A>G GRCh37
NC_000017.9:g.45628045A>G NCBI36
NG_007400.1:g.10955T>C , LRG_1:g.10955T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1057-20T>C MANE Select ENSP00000225964.6:n.1057-20T>C
ENST00000225964.9:c.1057-20T>C ENSP00000225964.5:n.1057-20T>C
NM_000088.3:c.1057-20T>C , LRG_1t1:c.1057-20T>C NP_000079.2:n.1057-20T>C
XM_005257058.3:c.1057-20T>C XP_005257115.2:n.1057-20T>C
XM_005257059.3:c.957+629T>C XP_005257116.2:n.957+629T>C
XM_011524341.1:c.958-207T>C XP_011522643.1:n.958-207T>C
XM_005257058.4:c.1057-20T>C XP_005257115.2:n.1057-20T>C
XM_005257059.4:c.957+629T>C XP_005257116.2:n.957+629T>C
NM_000088.4:c.1057-20T>C MANE Select NP_000079.2:n.1057-20T>C
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