Canonical Allele Identifier: CA8645227
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402739
ClinVar RCV Id: RCV001908689
dbSNP Id: rs745582193
ExAC: 17:48271918 C / T
gnomAD v2: 17-48271918-C-T
gnomAD v3: 17-50194557-C-T
gnomAD v4: 17-50194557-C-T
MyVariant Identifiers: chr17:g.48271918C>T (hg19) chr17:g.50194557C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194557C>T , CM000679.2:g.50194557C>T GRCh38
NC_000017.10:g.48271918C>T , CM000679.1:g.48271918C>T GRCh37
NC_000017.9:g.45626917C>T NCBI36
NG_007400.1:g.12083G>A , LRG_1:g.12083G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1515+16G>A MANE Select ENSP00000225964.6:n.1515+16G>A
ENST00000225964.9:c.1515+16G>A ENSP00000225964.5:n.1515+16G>A
ENST00000471344.1:n.459+16G>A
NM_000088.3:c.1515+16G>A , LRG_1t1:c.1515+16G>A NP_000079.2:n.1515+16G>A
XM_005257058.3:c.1515+16G>A XP_005257115.2:n.1515+16G>A
XM_005257059.3:c.957+1757G>A XP_005257116.2:n.957+1757G>A
XM_011524341.1:c.1317+16G>A XP_011522643.1:n.1317+16G>A
XM_005257058.4:c.1515+16G>A XP_005257115.2:n.1515+16G>A
XM_005257059.4:c.957+1757G>A XP_005257116.2:n.957+1757G>A
NM_000088.4:c.1515+16G>A MANE Select NP_000079.2:n.1515+16G>A
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