Canonical Allele Identifier: CA2263918837
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50195628C= , CM000679.2:g.50195628C= GRCh38
NC_000017.10:g.48272989C= , CM000679.1:g.48272989C= GRCh37
NC_000017.9:g.45627988C= NCBI36
NG_007400.1:g.11012G= , LRG_1:g.11012G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1094G= MANE Select ENSP00000225964.6:p.Gly365=
ENST00000225964.9:c.1094G= ENSP00000225964.5:p.Gly365=
ENST00000471344.1:n.38G=
NM_000088.3:c.1094G= , LRG_1t1:c.1094G= NP_000079.2:p.Gly365=
XM_005257058.3:c.1094G= XP_005257115.2:p.Gly365=
XM_005257059.3:c.957+686G= XP_005257116.2:n.957+686G=
XM_011524341.1:c.958-150G= XP_011522643.1:n.958-150G=
XM_005257058.4:c.1094G= XP_005257115.2:p.Gly365=
XM_005257059.4:c.957+686G= XP_005257116.2:n.957+686G=
NM_000088.4:c.1094G= MANE Select NP_000079.2:p.Gly365=