Canonical Allele Identifier: CA984452110
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1906402722
gnomAD v3: 17-50185424-G-C
gnomAD v4: 17-50185424-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185424G>C , CM000679.2:g.50185424G>C GRCh38
NC_000017.10:g.48262785G>C , CM000679.1:g.48262785G>C GRCh37
NC_000017.9:g.45617784G>C NCBI36
NG_007400.1:g.21216C>G , LRG_1:g.21216C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*78C>G MANE Select ENSP00000225964.6:n.*78C>G
ENST00000225964.9:c.*78C>G ENSP00000225964.5:n.*78C>G
NM_000088.3:c.*78C>G , LRG_1t1:c.*78C>G NP_000079.2:n.*78C>G
XM_005257058.3:c.*78C>G XP_005257115.2:n.*78C>G
XM_005257059.3:c.*78C>G XP_005257116.2:n.*78C>G
XM_011524341.1:c.*78C>G XP_011522643.1:n.*78C>G
XM_005257058.4:c.*78C>G XP_005257115.2:n.*78C>G
XM_005257059.4:c.*78C>G XP_005257116.2:n.*78C>G
NM_000088.4:c.*78C>G MANE Select NP_000079.2:n.*78C>G
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