Canonical Allele Identifier: CA2638677699
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50196894-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50196894A>T , CM000679.2:g.50196894A>T GRCh38
NC_000017.10:g.48274255A>T , CM000679.1:g.48274255A>T GRCh37
NC_000017.9:g.45629254A>T NCBI36
NG_007400.1:g.9746T>A , LRG_1:g.9746T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.804+116T>A MANE Select ENSP00000225964.6:n.804+116T>A
ENST00000225964.9:c.804+116T>A ENSP00000225964.5:n.804+116T>A
ENST00000495677.1:n.531+116T>A
NM_000088.3:c.804+116T>A , LRG_1t1:c.804+116T>A NP_000079.2:n.804+116T>A
XM_005257058.3:c.804+116T>A XP_005257115.2:n.804+116T>A
XM_005257059.3:c.804+116T>A XP_005257116.2:n.804+116T>A
XM_011524341.1:c.804+116T>A XP_011522643.1:n.804+116T>A
XM_005257058.4:c.804+116T>A XP_005257115.2:n.804+116T>A
XM_005257059.4:c.804+116T>A XP_005257116.2:n.804+116T>A
NM_000088.4:c.804+116T>A MANE Select NP_000079.2:n.804+116T>A
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Search 100 bp 3'