Canonical Allele Identifier: CA2263920622
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199284G= , CM000679.2:g.50199284G= GRCh38
NC_000017.10:g.48276645G= , CM000679.1:g.48276645G= GRCh37
NC_000017.9:g.45631644G= NCBI36
NG_007400.1:g.7356C= , LRG_1:g.7356C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.413C= MANE Select ENSP00000225964.6:p.Pro138=
ENST00000225964.9:c.413C= ENSP00000225964.5:p.Pro138=
ENST00000474644.1:n.634C=
NM_000088.3:c.413C= , LRG_1t1:c.413C= NP_000079.2:p.Pro138=
XM_005257058.3:c.413C= XP_005257115.2:p.Pro138=
XM_005257059.3:c.413C= XP_005257116.2:p.Pro138=
XM_011524341.1:c.413C= XP_011522643.1:p.Pro138=
XM_005257058.4:c.413C= XP_005257115.2:p.Pro138=
XM_005257059.4:c.413C= XP_005257116.2:p.Pro138=
NM_000088.4:c.413C= MANE Select NP_000079.2:p.Pro138=