Canonical Allele Identifier: CA2263919597
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197084C= , CM000679.2:g.50197084C= GRCh38
NC_000017.10:g.48274445C= , CM000679.1:g.48274445C= GRCh37
NC_000017.9:g.45629444C= NCBI36
NG_007400.1:g.9556G= , LRG_1:g.9556G=

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.751-21G= MANE Select ENSP00000225964.6:n.751-21G=
ENST00000225964.9:c.751-21G= ENSP00000225964.5:n.751-21G=
ENST00000495677.1:n.478-21G=
NM_000088.3:c.751-21G= , LRG_1t1:c.751-21G= NP_000079.2:n.751-21G=
XM_005257058.3:c.751-21G= XP_005257115.2:n.751-21G=
XM_005257059.3:c.751-21G= XP_005257116.2:n.751-21G=
XM_011524341.1:c.751-21G= XP_011522643.1:n.751-21G=
XM_005257058.4:c.751-21G= XP_005257115.2:n.751-21G=
XM_005257059.4:c.751-21G= XP_005257116.2:n.751-21G=
NM_000088.4:c.751-21G= MANE Select NP_000079.2:n.751-21G=