Canonical Allele Identifier: CA2263913769
Community Standard Title: NM_000088.4(COL1A1):c.4249-12G=
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185660C= , CM000679.2:g.50185660C= GRCh38
NC_000017.10:g.48263021C= , CM000679.1:g.48263021C= GRCh37
NC_000017.9:g.45618020C= NCBI36
NG_007400.1:g.20980G= , LRG_1:g.20980G=

Transcript Alleles

HGVS Amino-acid Change
NM_000088.4:c.4249-12G= MANE Select NP_000079.2:n.4249-12G=
ENST00000225964.10:c.4249-12G= MANE Select ENSP00000225964.6:n.4249-12G=
NM_000088.3:c.4249-12G= , LRG_1t1:c.4249-12G= NP_000079.2:n.4249-12G=
ENST00000225964.9:c.4249-12G= ENSP00000225964.5:n.4249-12G=
XM_005257058.3:c.3979-12G= XP_005257115.2:n.3979-12G=
XM_005257058.4:c.3979-12G= XP_005257115.2:n.3979-12G=
XM_005257059.3:c.3331-12G= XP_005257116.2:n.3331-12G=
XM_005257059.4:c.3331-12G= XP_005257116.2:n.3331-12G=
XM_011524341.1:c.4051-12G= XP_011522643.1:n.4051-12G=