Canonical Allele Identifier: CA10606376
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289228
ClinVar RCV Id: RCV000352723
dbSNP Id: rs886044125
MyVariant Identifiers: chr17:g.48265971C>T (hg19) chr17:g.50188610C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50188610C>T , CM000679.2:g.50188610C>T GRCh38
NC_000017.10:g.48265971C>T , CM000679.1:g.48265971C>T GRCh37
NC_000017.9:g.45620970C>T NCBI36
NG_007400.1:g.18030G>A , LRG_1:g.18030G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.3127G>A MANE Select ENSP00000225964.6:p.Gly1043Arg
ENST00000225964.9:c.3127G>A ENSP00000225964.5:p.Gly1043Arg
ENST00000511732.1:n.71G>A
NM_000088.3:c.3127G>A , LRG_1t1:c.3127G>A NP_000079.2:p.Gly1043Arg
XM_005257058.3:c.2857G>A XP_005257115.2:p.Gly953Arg
XM_005257059.3:c.2209G>A XP_005257116.2:p.Gly737Arg
XM_011524341.1:c.2929G>A XP_011522643.1:p.Gly977Arg
XM_005257058.4:c.2857G>A XP_005257115.2:p.Gly953Arg
XM_005257059.4:c.2209G>A XP_005257116.2:p.Gly737Arg
NM_000088.4:c.3127G>A MANE Select NP_000079.2:p.Gly1043Arg
Search 100 bp 5'
Search 100 bp 3'