Canonical Allele Identifier: CA2263913402
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1906356552
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185092A>G , CM000679.2:g.50185092A>G GRCh38
NC_000017.10:g.48262453A>G , CM000679.1:g.48262453A>G GRCh37
NC_000017.9:g.45617452A>G NCBI36
NG_007400.1:g.21548T>C , LRG_1:g.21548T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*410T>C MANE Select ENSP00000225964.6:n.*410T>C
ENST00000225964.9:c.*410T>C ENSP00000225964.5:n.*410T>C
NM_000088.3:c.*410T>C , LRG_1t1:c.*410T>C NP_000079.2:n.*410T>C
XM_005257058.3:c.*410T>C XP_005257115.2:n.*410T>C
XM_005257059.3:c.*410T>C XP_005257116.2:n.*410T>C
XM_011524341.1:c.*410T>C XP_011522643.1:n.*410T>C
XM_005257058.4:c.*410T>C XP_005257115.2:n.*410T>C
XM_005257059.4:c.*410T>C XP_005257116.2:n.*410T>C
NM_000088.4:c.*410T>C MANE Select NP_000079.2:n.*410T>C
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