Canonical Allele Identifier: CA2263913670
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185495A= , CM000679.2:g.50185495A= GRCh38
NC_000017.10:g.48262856A= , CM000679.1:g.48262856A= GRCh37
NC_000017.9:g.45617855A= NCBI36
NG_007400.1:g.21145T= , LRG_1:g.21145T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*7T= MANE Select ENSP00000225964.6:n.*7T=
ENST00000225964.9:c.*7T= ENSP00000225964.5:n.*7T=
NM_000088.3:c.*7T= , LRG_1t1:c.*7T= NP_000079.2:n.*7T=
XM_005257058.3:c.*7T= XP_005257115.2:n.*7T=
XM_005257059.3:c.*7T= XP_005257116.2:n.*7T=
XM_011524341.1:c.*7T= XP_011522643.1:n.*7T=
XM_005257058.4:c.*7T= XP_005257115.2:n.*7T=
XM_005257059.4:c.*7T= XP_005257116.2:n.*7T=
NM_000088.4:c.*7T= MANE Select NP_000079.2:n.*7T=