Canonical Allele Identifier: CA291542801
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402985
ClinVar RCV Id: RCV001908815
dbSNP Id: rs954167907
gnomAD v2: 17-48263267-C-T
gnomAD v3: 17-50185906-C-T
gnomAD v4: 17-50185906-C-T
MyVariant Identifiers: chr17:g.48263267C>T (hg19) chr17:g.50185906C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185906C>T , CM000679.2:g.50185906C>T GRCh38
NC_000017.10:g.48263267C>T , CM000679.1:g.48263267C>T GRCh37
NC_000017.9:g.45618266C>T NCBI36
NG_007400.1:g.20734G>A , LRG_1:g.20734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4120G>A MANE Select ENSP00000225964.6:p.Val1374Met
ENST00000225964.9:c.4120G>A ENSP00000225964.5:p.Val1374Met
ENST00000510710.3:n.1085G>A
NM_000088.3:c.4120G>A , LRG_1t1:c.4120G>A NP_000079.2:p.Val1374Met
XM_005257058.3:c.3850G>A XP_005257115.2:p.Val1284Met
XM_005257059.3:c.3202G>A XP_005257116.2:p.Val1068Met
XM_011524341.1:c.3922G>A XP_011522643.1:p.Val1308Met
XM_005257058.4:c.3850G>A XP_005257115.2:p.Val1284Met
XM_005257059.4:c.3202G>A XP_005257116.2:p.Val1068Met
NM_000088.4:c.4120G>A MANE Select NP_000079.2:p.Val1374Met
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