Canonical Allele Identifier: CA2263913623
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185445C= , CM000679.2:g.50185445C= GRCh38
NC_000017.10:g.48262806C= , CM000679.1:g.48262806C= GRCh37
NC_000017.9:g.45617805C= NCBI36
NG_007400.1:g.21195G= , LRG_1:g.21195G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*57G= MANE Select ENSP00000225964.6:n.*57G=
ENST00000225964.9:c.*57G= ENSP00000225964.5:n.*57G=
NM_000088.3:c.*57G= , LRG_1t1:c.*57G= NP_000079.2:n.*57G=
XM_005257058.3:c.*57G= XP_005257115.2:n.*57G=
XM_005257059.3:c.*57G= XP_005257116.2:n.*57G=
XM_011524341.1:c.*57G= XP_011522643.1:n.*57G=
XM_005257058.4:c.*57G= XP_005257115.2:n.*57G=
XM_005257059.4:c.*57G= XP_005257116.2:n.*57G=
NM_000088.4:c.*57G= MANE Select NP_000079.2:n.*57G=