Canonical Allele Identifier: CA2504841607
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2184814
ClinVar RCV Id: RCV002632328
gnomAD v4: 17-50194645-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194645C>T , CM000679.2:g.50194645C>T GRCh38
NC_000017.10:g.48272006C>T , CM000679.1:g.48272006C>T GRCh37
NC_000017.9:g.45627005C>T NCBI36
NG_007400.1:g.11995G>A , LRG_1:g.11995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1462-19G>A MANE Select ENSP00000225964.6:n.1462-19G>A
ENST00000225964.9:c.1462-19G>A ENSP00000225964.5:n.1462-19G>A
ENST00000471344.1:n.406-19G>A
NM_000088.3:c.1462-19G>A , LRG_1t1:c.1462-19G>A NP_000079.2:n.1462-19G>A
XM_005257058.3:c.1462-19G>A XP_005257115.2:n.1462-19G>A
XM_005257059.3:c.957+1669G>A XP_005257116.2:n.957+1669G>A
XM_011524341.1:c.1264-19G>A XP_011522643.1:n.1264-19G>A
XM_005257058.4:c.1462-19G>A XP_005257115.2:n.1462-19G>A
XM_005257059.4:c.957+1669G>A XP_005257116.2:n.957+1669G>A
NM_000088.4:c.1462-19G>A MANE Select NP_000079.2:n.1462-19G>A
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