Canonical Allele Identifier: CA291542793
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1505019
ClinVar RCV Id: RCV002020282
dbSNP Id: rs377379528
gnomAD v2: 17-48263213-C-T
gnomAD v3: 17-50185852-C-T
gnomAD v4: 17-50185852-C-T
MyVariant Identifiers: chr17:g.48263213C>T (hg19) chr17:g.50185852C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185852C>T , CM000679.2:g.50185852C>T GRCh38
NC_000017.10:g.48263213C>T , CM000679.1:g.48263213C>T GRCh37
NC_000017.9:g.45618212C>T NCBI36
NG_007400.1:g.20788G>A , LRG_1:g.20788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4174G>A MANE Select ENSP00000225964.6:p.Gly1392Ser
ENST00000225964.9:c.4174G>A ENSP00000225964.5:p.Gly1392Ser
ENST00000510710.3:n.1139G>A
NM_000088.3:c.4174G>A , LRG_1t1:c.4174G>A NP_000079.2:p.Gly1392Ser
XM_005257058.3:c.3904G>A XP_005257115.2:p.Gly1302Ser
XM_005257059.3:c.3256G>A XP_005257116.2:p.Gly1086Ser
XM_011524341.1:c.3976G>A XP_011522643.1:p.Gly1326Ser
XM_005257058.4:c.3904G>A XP_005257115.2:p.Gly1302Ser
XM_005257059.4:c.3256G>A XP_005257116.2:p.Gly1086Ser
NM_000088.4:c.4174G>A MANE Select NP_000079.2:p.Gly1392Ser
Search 100 bp 5'
Search 100 bp 3'