Canonical Allele Identifier: CA2263914419
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50186895C= , CM000679.2:g.50186895C= GRCh38
NC_000017.10:g.48264256C= , CM000679.1:g.48264256C= GRCh37
NC_000017.9:g.45619255C= NCBI36
NG_007400.1:g.19745G= , LRG_1:g.19745G=

Transcript Alleles

HGVS Amino-acid Change
NM_000088.4:c.3559G= MANE Select NP_000079.2:p.Gly1187=
ENST00000225964.10:c.3559G= MANE Select ENSP00000225964.6:p.Gly1187=
NM_000088.3:c.3559G= , LRG_1t1:c.3559G= NP_000079.2:p.Gly1187=
ENST00000225964.9:c.3559G= ENSP00000225964.5:p.Gly1187=
ENST00000510710.3:n.228G=
XM_005257058.3:c.3289G= XP_005257115.2:p.Gly1097=
XM_005257058.4:c.3289G= XP_005257115.2:p.Gly1097=
XM_005257059.3:c.2641G= XP_005257116.2:p.Gly881=
XM_005257059.4:c.2641G= XP_005257116.2:p.Gly881=
XM_011524341.1:c.3361G= XP_011522643.1:p.Gly1121=