Canonical Allele Identifier: CA2263913700
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185545T= , CM000679.2:g.50185545T= GRCh38
NC_000017.10:g.48262906T= , CM000679.1:g.48262906T= GRCh37
NC_000017.9:g.45617905T= NCBI36
NG_007400.1:g.21095A= , LRG_1:g.21095A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4352A= MANE Select ENSP00000225964.6:p.Asp1451=
ENST00000225964.9:c.4352A= ENSP00000225964.5:p.Asp1451=
NM_000088.3:c.4352A= , LRG_1t1:c.4352A= NP_000079.2:p.Asp1451=
XM_005257058.3:c.4082A= XP_005257115.2:p.Asp1361=
XM_005257059.3:c.3434A= XP_005257116.2:p.Asp1145=
XM_011524341.1:c.4154A= XP_011522643.1:p.Asp1385=
XM_005257058.4:c.4082A= XP_005257115.2:p.Asp1361=
XM_005257059.4:c.3434A= XP_005257116.2:p.Asp1145=
NM_000088.4:c.4352A= MANE Select NP_000079.2:p.Asp1451=