Canonical Allele Identifier: CA8645265
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 388459
dbSNP Id: rs751299130

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1375C>A MANE Select ENSP00000225964.6:p.Pro459Thr
ENST00000225964.9:c.1375C>A ENSP00000225964.5:p.Pro459Thr
ENST00000471344.1:n.319C>A
NM_000088.3:c.1375C>A , LRG_1t1:c.1375C>A NP_000079.2:p.Pro459Thr
XM_005257058.3:c.1375C>A XP_005257115.2:p.Pro459Thr
XM_005257059.3:c.957+1507C>A XP_005257116.2:n.957+1507C>A
XM_011524341.1:c.1177C>A XP_011522643.1:p.Pro393Thr
XM_005257058.4:c.1375C>A XP_005257115.2:p.Pro459Thr
XM_005257059.4:c.957+1507C>A XP_005257116.2:n.957+1507C>A
NM_000088.4:c.1375C>A MANE Select NP_000079.2:p.Pro459Thr