Canonical Allele Identifier: CA8645266
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1979052
ClinVar RCV Id: RCV002766055
dbSNP Id: rs751299130
ExAC: 17:48272168 G / A
gnomAD v2: 17-48272168-G-A
gnomAD v4: 17-50194807-G-A
MyVariant Identifiers: chr17:g.48272168G>A (hg19) chr17:g.50194807G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50194807G>A , CM000679.2:g.50194807G>A GRCh38
NC_000017.10:g.48272168G>A , CM000679.1:g.48272168G>A GRCh37
NC_000017.9:g.45627167G>A NCBI36
NG_007400.1:g.11833C>T , LRG_1:g.11833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1375C>T MANE Select ENSP00000225964.6:p.Pro459Ser
ENST00000225964.9:c.1375C>T ENSP00000225964.5:p.Pro459Ser
ENST00000471344.1:n.319C>T
NM_000088.3:c.1375C>T , LRG_1t1:c.1375C>T NP_000079.2:p.Pro459Ser
XM_005257058.3:c.1375C>T XP_005257115.2:p.Pro459Ser
XM_005257059.3:c.957+1507C>T XP_005257116.2:n.957+1507C>T
XM_011524341.1:c.1177C>T XP_011522643.1:p.Pro393Ser
XM_005257058.4:c.1375C>T XP_005257115.2:p.Pro459Ser
XM_005257059.4:c.957+1507C>T XP_005257116.2:n.957+1507C>T
NM_000088.4:c.1375C>T MANE Select NP_000079.2:p.Pro459Ser
Search 100 bp 5'
Search 100 bp 3'