Canonical Allele Identifier: CA2263918851
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195656C= , CM000679.2:g.50195656C= GRCh38
NC_000017.10:g.48273017C= , CM000679.1:g.48273017C= GRCh37
NC_000017.9:g.45628016C= NCBI36
NG_007400.1:g.10984G= , LRG_1:g.10984G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1066G= MANE Select ENSP00000225964.6:p.Gly356=
ENST00000225964.9:c.1066G= ENSP00000225964.5:p.Gly356=
ENST00000471344.1:n.10G=
NM_000088.3:c.1066G= , LRG_1t1:c.1066G= NP_000079.2:p.Gly356=
XM_005257058.3:c.1066G= XP_005257115.2:p.Gly356=
XM_005257059.3:c.957+658G= XP_005257116.2:n.957+658G=
XM_011524341.1:c.958-178G= XP_011522643.1:n.958-178G=
XM_005257058.4:c.1066G= XP_005257115.2:p.Gly356=
XM_005257059.4:c.957+658G= XP_005257116.2:n.957+658G=
NM_000088.4:c.1066G= MANE Select NP_000079.2:p.Gly356=