Canonical Allele Identifier: CA281089
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17322
ClinVar RCV Id: RCV000018863 RCV001596935 RCV003398544
dbSNP Id: rs72654802
gnomAD v4: 17-50188122-C-T
MyVariant Identifiers: chr17:g.48265483C>T (hg19) chr17:g.50188122C>T (hg38)
PubMed: PMID:1634225 PMID:25944380
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188122C>T , CM000679.2:g.50188122C>T GRCh38
NC_000017.10:g.48265483C>T , CM000679.1:g.48265483C>T GRCh37
NC_000017.9:g.45620482C>T NCBI36
NG_007400.1:g.18518G>A , LRG_1:g.18518G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.3235G>A MANE Select ENSP00000225964.6:p.Gly1079Ser
ENST00000225964.9:c.3235G>A ENSP00000225964.5:p.Gly1079Ser
ENST00000486572.1:n.433G>A
ENST00000511732.1:n.559G>A
NM_000088.3:c.3235G>A , LRG_1t1:c.3235G>A NP_000079.2:p.Gly1079Ser
XM_005257058.3:c.2965G>A XP_005257115.2:p.Gly989Ser
XM_005257059.3:c.2317G>A XP_005257116.2:p.Gly773Ser
XM_011524341.1:c.3037G>A XP_011522643.1:p.Gly1013Ser
XM_005257058.4:c.2965G>A XP_005257115.2:p.Gly989Ser
XM_005257059.4:c.2317G>A XP_005257116.2:p.Gly773Ser
NM_000088.4:c.3235G>A MANE Select NP_000079.2:p.Gly1079Ser
Search 100 bp 5'
Search 100 bp 3'