Canonical Allele Identifier: CA656384159
Gene: COL1A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185419dup , CM000679.2:g.50185419dup GRCh38
NC_000017.10:g.48262780dup , CM000679.1:g.48262780dup GRCh37
NC_000017.9:g.45617779dup NCBI36
NG_007400.1:g.21225dup , LRG_1:g.21225dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*87dup MANE Select ENSP00000225964.6:n.*87dup
ENST00000225964.9:c.*87dup ENSP00000225964.5:n.*87dup
NM_000088.3:c.*87dup , LRG_1t1:c.*87dup NP_000079.2:n.*87dup
XM_005257058.3:c.*87dup XP_005257115.2:n.*87dup
XM_005257059.3:c.*87dup XP_005257116.2:n.*87dup
XM_011524341.1:c.*87dup XP_011522643.1:n.*87dup
XM_005257058.4:c.*87dup XP_005257115.2:n.*87dup
XM_005257059.4:c.*87dup XP_005257116.2:n.*87dup
NM_000088.4:c.*87dup MANE Select NP_000079.2:n.*87dup