Canonical Allele Identifier: CA2263920668
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199358G= , CM000679.2:g.50199358G= GRCh38
NC_000017.10:g.48276719G= , CM000679.1:g.48276719G= GRCh37
NC_000017.9:g.45631718G= NCBI36
NG_007400.1:g.7282C= , LRG_1:g.7282C=

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.370-31C= MANE Select ENSP00000225964.6:n.370-31C=
ENST00000225964.9:c.370-31C= ENSP00000225964.5:n.370-31C=
ENST00000474644.1:n.591-31C=
ENST00000507689.1:c.424-31C= ENSP00000460459.1:n.424-31C=
NM_000088.3:c.370-31C= , LRG_1t1:c.370-31C= NP_000079.2:n.370-31C=
XM_005257058.3:c.370-31C= XP_005257115.2:n.370-31C=
XM_005257059.3:c.370-31C= XP_005257116.2:n.370-31C=
XM_011524341.1:c.370-31C= XP_011522643.1:n.370-31C=
XM_005257058.4:c.370-31C= XP_005257115.2:n.370-31C=
XM_005257059.4:c.370-31C= XP_005257116.2:n.370-31C=
NM_000088.4:c.370-31C= MANE Select NP_000079.2:n.370-31C=