Canonical Allele Identifier: CA291542692
Gene: COL1A1 HGNC NCBI

Linked Data

dbSNP Id: rs912338820
gnomAD v3: 17-50184965-C-G
gnomAD v4: 17-50184965-C-G
MyVariant Identifiers: chr17:g.48262326C>G (hg19) chr17:g.50184965C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50184965C>G , CM000679.2:g.50184965C>G GRCh38
NC_000017.10:g.48262326C>G , CM000679.1:g.48262326C>G GRCh37
NC_000017.9:g.45617325C>G NCBI36
NG_007400.1:g.21675G>C , LRG_1:g.21675G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*537G>C MANE Select ENSP00000225964.6:n.*537G>C
ENST00000225964.9:c.*537G>C ENSP00000225964.5:n.*537G>C
NM_000088.3:c.*537G>C , LRG_1t1:c.*537G>C NP_000079.2:n.*537G>C
XM_005257058.3:c.*537G>C XP_005257115.2:n.*537G>C
XM_005257059.3:c.*537G>C XP_005257116.2:n.*537G>C
XM_011524341.1:c.*537G>C XP_011522643.1:n.*537G>C
XM_005257058.4:c.*537G>C XP_005257115.2:n.*537G>C
XM_005257059.4:c.*537G>C XP_005257116.2:n.*537G>C
NM_000088.4:c.*537G>C MANE Select NP_000079.2:n.*537G>C
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