Canonical Allele Identifier: CA2263913841
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185777C= , CM000679.2:g.50185777C= GRCh38
NC_000017.10:g.48263138C= , CM000679.1:g.48263138C= GRCh37
NC_000017.9:g.45618137C= NCBI36
NG_007400.1:g.20863G= , LRG_1:g.20863G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4248+1G= MANE Select ENSP00000225964.6:n.4248+1G=
ENST00000225964.9:c.4248+1G= ENSP00000225964.5:n.4248+1G=
NM_000088.3:c.4248+1G= , LRG_1t1:c.4248+1G= NP_000079.2:n.4248+1G=
XM_005257058.3:c.3978+1G= XP_005257115.2:n.3978+1G=
XM_005257059.3:c.3330+1G= XP_005257116.2:n.3330+1G=
XM_011524341.1:c.4050+1G= XP_011522643.1:n.4050+1G=
XM_005257058.4:c.3978+1G= XP_005257115.2:n.3978+1G=
XM_005257059.4:c.3330+1G= XP_005257116.2:n.3330+1G=
NM_000088.4:c.4248+1G= MANE Select NP_000079.2:n.4248+1G=