Canonical Allele Identifier: CA2263913342
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1906346741
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50184970dup , CM000679.2:g.50184970dup GRCh38
NC_000017.10:g.48262331dup , CM000679.1:g.48262331dup GRCh37
NC_000017.9:g.45617330dup NCBI36
NG_007400.1:g.21670dup , LRG_1:g.21670dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*532dup MANE Select ENSP00000225964.6:n.*532dup
ENST00000225964.9:c.*532dup ENSP00000225964.5:n.*532dup
NM_000088.3:c.*532dup , LRG_1t1:c.*532dup NP_000079.2:n.*532dup
XM_005257058.3:c.*532dup XP_005257115.2:n.*532dup
XM_005257059.3:c.*532dup XP_005257116.2:n.*532dup
XM_011524341.1:c.*532dup XP_011522643.1:n.*532dup
XM_005257058.4:c.*532dup XP_005257115.2:n.*532dup
XM_005257059.4:c.*532dup XP_005257116.2:n.*532dup
NM_000088.4:c.*532dup MANE Select NP_000079.2:n.*532dup
Search 100 bp 5'
Search 100 bp 3'