Canonical Allele Identifier: CA2638704023
Gene: COL1A1 HGNC NCBI

Linked Data

gnomAD v4: 17-50185354-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185354C>T , CM000679.2:g.50185354C>T GRCh38
NC_000017.10:g.48262715C>T , CM000679.1:g.48262715C>T GRCh37
NC_000017.9:g.45617714C>T NCBI36
NG_007400.1:g.21286G>A , LRG_1:g.21286G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*148G>A MANE Select ENSP00000225964.6:n.*148G>A
ENST00000225964.9:c.*148G>A ENSP00000225964.5:n.*148G>A
NM_000088.3:c.*148G>A , LRG_1t1:c.*148G>A NP_000079.2:n.*148G>A
XM_005257058.3:c.*148G>A XP_005257115.2:n.*148G>A
XM_005257059.3:c.*148G>A XP_005257116.2:n.*148G>A
XM_011524341.1:c.*148G>A XP_011522643.1:n.*148G>A
XM_005257058.4:c.*148G>A XP_005257115.2:n.*148G>A
XM_005257059.4:c.*148G>A XP_005257116.2:n.*148G>A
NM_000088.4:c.*148G>A MANE Select NP_000079.2:n.*148G>A
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