Canonical Allele Identifier: CA2263913808
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185711C= , CM000679.2:g.50185711C= GRCh38
NC_000017.10:g.48263072C= , CM000679.1:g.48263072C= GRCh37
NC_000017.9:g.45618071C= NCBI36
NG_007400.1:g.20929G= , LRG_1:g.20929G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4249-63G= MANE Select ENSP00000225964.6:n.4249-63G=
ENST00000225964.9:c.4249-63G= ENSP00000225964.5:n.4249-63G=
NM_000088.3:c.4249-63G= , LRG_1t1:c.4249-63G= NP_000079.2:n.4249-63G=
XM_005257058.3:c.3979-63G= XP_005257115.2:n.3979-63G=
XM_005257059.3:c.3331-63G= XP_005257116.2:n.3331-63G=
XM_011524341.1:c.4051-63G= XP_011522643.1:n.4051-63G=
XM_005257058.4:c.3979-63G= XP_005257115.2:n.3979-63G=
XM_005257059.4:c.3331-63G= XP_005257116.2:n.3331-63G=
NM_000088.4:c.4249-63G= MANE Select NP_000079.2:n.4249-63G=