Canonical Allele Identifier: CA2263917331
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50193079C= , CM000679.2:g.50193079C= GRCh38
NC_000017.10:g.48270440C= , CM000679.1:g.48270440C= GRCh37
NC_000017.9:g.45625439C= NCBI36
NG_007400.1:g.13561G= , LRG_1:g.13561G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.1768-32G= MANE Select ENSP00000225964.6:n.1768-32G=
ENST00000225964.9:c.1768-32G= ENSP00000225964.5:n.1768-32G=
ENST00000476387.1:n.117-32G=
NM_000088.3:c.1768-32G= , LRG_1t1:c.1768-32G= NP_000079.2:n.1768-32G=
XM_005257058.3:c.1768-32G= XP_005257115.2:n.1768-32G=
XM_005257059.3:c.958-386G= XP_005257116.2:n.958-386G=
XM_011524341.1:c.1570-32G= XP_011522643.1:n.1570-32G=
XM_005257058.4:c.1768-32G= XP_005257115.2:n.1768-32G=
XM_005257059.4:c.958-386G= XP_005257116.2:n.958-386G=
NM_000088.4:c.1768-32G= MANE Select NP_000079.2:n.1768-32G=