Canonical Allele Identifier: CA2638682998
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50199335-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199335G>T , CM000679.2:g.50199335G>T GRCh38
NC_000017.10:g.48276696G>T , CM000679.1:g.48276696G>T GRCh37
NC_000017.9:g.45631695G>T NCBI36
NG_007400.1:g.7305C>A , LRG_1:g.7305C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.370-8C>A MANE Select ENSP00000225964.6:n.370-8C>A
ENST00000225964.9:c.370-8C>A ENSP00000225964.5:n.370-8C>A
ENST00000474644.1:n.591-8C>A
ENST00000507689.1:c.424-8C>A ENSP00000460459.1:n.424-8C>A
NM_000088.3:c.370-8C>A , LRG_1t1:c.370-8C>A NP_000079.2:n.370-8C>A
XM_005257058.3:c.370-8C>A XP_005257115.2:n.370-8C>A
XM_005257059.3:c.370-8C>A XP_005257116.2:n.370-8C>A
XM_011524341.1:c.370-8C>A XP_011522643.1:n.370-8C>A
XM_005257058.4:c.370-8C>A XP_005257115.2:n.370-8C>A
XM_005257059.4:c.370-8C>A XP_005257116.2:n.370-8C>A
NM_000088.4:c.370-8C>A MANE Select NP_000079.2:n.370-8C>A
Search 100 bp 5'
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