Canonical Allele Identifier: CA2263913654
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185474G= , CM000679.2:g.50185474G= GRCh38
NC_000017.10:g.48262835G= , CM000679.1:g.48262835G= GRCh37
NC_000017.9:g.45617834G= NCBI36
NG_007400.1:g.21166C= , LRG_1:g.21166C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*28C= MANE Select ENSP00000225964.6:n.*28C=
ENST00000225964.9:c.*28C= ENSP00000225964.5:n.*28C=
NM_000088.3:c.*28C= , LRG_1t1:c.*28C= NP_000079.2:n.*28C=
XM_005257058.3:c.*28C= XP_005257115.2:n.*28C=
XM_005257059.3:c.*28C= XP_005257116.2:n.*28C=
XM_011524341.1:c.*28C= XP_011522643.1:n.*28C=
XM_005257058.4:c.*28C= XP_005257115.2:n.*28C=
XM_005257059.4:c.*28C= XP_005257116.2:n.*28C=
NM_000088.4:c.*28C= MANE Select NP_000079.2:n.*28C=