Canonical Allele Identifier: CA2263913650
Gene: COL1A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185465G= , CM000679.2:g.50185465G= GRCh38
NC_000017.10:g.48262826G= , CM000679.1:g.48262826G= GRCh37
NC_000017.9:g.45617825G= NCBI36
NG_007400.1:g.21175C= , LRG_1:g.21175C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*37C= MANE Select ENSP00000225964.6:n.*37C=
ENST00000225964.9:c.*37C= ENSP00000225964.5:n.*37C=
NM_000088.3:c.*37C= , LRG_1t1:c.*37C= NP_000079.2:n.*37C=
XM_005257058.3:c.*37C= XP_005257115.2:n.*37C=
XM_005257059.3:c.*37C= XP_005257116.2:n.*37C=
XM_011524341.1:c.*37C= XP_011522643.1:n.*37C=
XM_005257058.4:c.*37C= XP_005257115.2:n.*37C=
XM_005257059.4:c.*37C= XP_005257116.2:n.*37C=
NM_000088.4:c.*37C= MANE Select NP_000079.2:n.*37C=