Canonical Allele Identifier: CA2263920553
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199119C= , CM000679.2:g.50199119C= GRCh38
NC_000017.10:g.48276480C= , CM000679.1:g.48276480C= GRCh37
NC_000017.9:g.45631479C= NCBI36
NG_007400.1:g.7521G= , LRG_1:g.7521G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.471+107G= MANE Select ENSP00000225964.6:n.471+107G=
ENST00000225964.9:c.471+107G= ENSP00000225964.5:n.471+107G=
NM_000088.3:c.471+107G= , LRG_1t1:c.471+107G= NP_000079.2:n.471+107G=
XM_005257058.3:c.471+107G= XP_005257115.2:n.471+107G=
XM_005257059.3:c.471+107G= XP_005257116.2:n.471+107G=
XM_011524341.1:c.471+107G= XP_011522643.1:n.471+107G=
XM_005257058.4:c.471+107G= XP_005257115.2:n.471+107G=
XM_005257059.4:c.471+107G= XP_005257116.2:n.471+107G=
NM_000088.4:c.471+107G= MANE Select NP_000079.2:n.471+107G=