Canonical Allele Identifier: CA8645432
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281322
dbSNP Id: rs375914028

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195974A>T , CM000679.2:g.50195974A>T GRCh38
NC_000017.10:g.48273335A>T , CM000679.1:g.48273335A>T GRCh37
NC_000017.9:g.45628334A>T NCBI36
NG_007400.1:g.10666T>A , LRG_1:g.10666T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1005T>A MANE Select ENSP00000225964.6:p.Gly335=
ENST00000225964.9:c.1005T>A ENSP00000225964.5:p.Gly335=
NM_000088.3:c.1005T>A , LRG_1t1:c.1005T>A NP_000079.2:p.Gly335=
XM_005257058.3:c.1005T>A XP_005257115.2:p.Gly335=
XM_005257059.3:c.957+340T>A XP_005257116.2:n.957+340T>A
XM_011524341.1:c.957+340T>A XP_011522643.1:n.957+340T>A
XM_005257058.4:c.1005T>A XP_005257115.2:p.Gly335=
XM_005257059.4:c.957+340T>A XP_005257116.2:n.957+340T>A
NM_000088.4:c.1005T>A MANE Select NP_000079.2:p.Gly335=