Canonical Allele Identifier: CA1139665683
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 889274
ClinVar RCV Id: RCV001124184 RCV001123097 RCV001124183
dbSNP Id: rs1906402899
gnomAD v4: 17-50185429-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185429G>T , CM000679.2:g.50185429G>T GRCh38
NC_000017.10:g.48262790G>T , CM000679.1:g.48262790G>T GRCh37
NC_000017.9:g.45617789G>T NCBI36
NG_007400.1:g.21211C>A , LRG_1:g.21211C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*73C>A MANE Select ENSP00000225964.6:n.*73C>A
ENST00000225964.9:c.*73C>A ENSP00000225964.5:n.*73C>A
NM_000088.3:c.*73C>A , LRG_1t1:c.*73C>A NP_000079.2:n.*73C>A
XM_005257058.3:c.*73C>A XP_005257115.2:n.*73C>A
XM_005257059.3:c.*73C>A XP_005257116.2:n.*73C>A
XM_011524341.1:c.*73C>A XP_011522643.1:n.*73C>A
XM_005257058.4:c.*73C>A XP_005257115.2:n.*73C>A
XM_005257059.4:c.*73C>A XP_005257116.2:n.*73C>A
NM_000088.4:c.*73C>A MANE Select NP_000079.2:n.*73C>A
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