Canonical Allele Identifier: CA772779542
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs1343875036
gnomAD v4: 17-50185089-C-T
MyVariant Identifiers: chr17:g.48262450C>T (hg19) chr17:g.50185089C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185089C>T , CM000679.2:g.50185089C>T GRCh38
NC_000017.10:g.48262450C>T , CM000679.1:g.48262450C>T GRCh37
NC_000017.9:g.45617449C>T NCBI36
NG_007400.1:g.21551G>A , LRG_1:g.21551G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*413G>A MANE Select ENSP00000225964.6:n.*413G>A
ENST00000225964.9:c.*413G>A ENSP00000225964.5:n.*413G>A
NM_000088.3:c.*413G>A , LRG_1t1:c.*413G>A NP_000079.2:n.*413G>A
XM_005257058.3:c.*413G>A XP_005257115.2:n.*413G>A
XM_005257059.3:c.*413G>A XP_005257116.2:n.*413G>A
XM_011524341.1:c.*413G>A XP_011522643.1:n.*413G>A
XM_005257058.4:c.*413G>A XP_005257115.2:n.*413G>A
XM_005257059.4:c.*413G>A XP_005257116.2:n.*413G>A
NM_000088.4:c.*413G>A MANE Select NP_000079.2:n.*413G>A
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