Canonical Allele Identifier: CA2263920674
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199368G= , CM000679.2:g.50199368G= GRCh38
NC_000017.10:g.48276729G= , CM000679.1:g.48276729G= GRCh37
NC_000017.9:g.45631728G= NCBI36
NG_007400.1:g.7272C= , LRG_1:g.7272C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.370-41C= MANE Select ENSP00000225964.6:n.370-41C=
ENST00000225964.9:c.370-41C= ENSP00000225964.5:n.370-41C=
ENST00000474644.1:n.591-41C=
ENST00000507689.1:c.424-41C= ENSP00000460459.1:n.424-41C=
NM_000088.3:c.370-41C= , LRG_1t1:c.370-41C= NP_000079.2:n.370-41C=
XM_005257058.3:c.370-41C= XP_005257115.2:n.370-41C=
XM_005257059.3:c.370-41C= XP_005257116.2:n.370-41C=
XM_011524341.1:c.370-41C= XP_011522643.1:n.370-41C=
XM_005257058.4:c.370-41C= XP_005257115.2:n.370-41C=
XM_005257059.4:c.370-41C= XP_005257116.2:n.370-41C=
NM_000088.4:c.370-41C= MANE Select NP_000079.2:n.370-41C=