Canonical Allele Identifier: CA291542743
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 889272
ClinVar RCV Id: RCV001123093 RCV001127151 RCV001127152
dbSNP Id: rs367971695
gnomAD v2: 17-48262770-T-C
gnomAD v3: 17-50185409-T-C
gnomAD v4: 17-50185409-T-C
MyVariant Identifiers: chr17:g.48262770T>C (hg19) chr17:g.50185409T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185409T>C , CM000679.2:g.50185409T>C GRCh38
NC_000017.10:g.48262770T>C , CM000679.1:g.48262770T>C GRCh37
NC_000017.9:g.45617769T>C NCBI36
NG_007400.1:g.21231A>G , LRG_1:g.21231A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*93A>G MANE Select ENSP00000225964.6:n.*93A>G
ENST00000225964.9:c.*93A>G ENSP00000225964.5:n.*93A>G
NM_000088.3:c.*93A>G , LRG_1t1:c.*93A>G NP_000079.2:n.*93A>G
XM_005257058.3:c.*93A>G XP_005257115.2:n.*93A>G
XM_005257059.3:c.*93A>G XP_005257116.2:n.*93A>G
XM_011524341.1:c.*93A>G XP_011522643.1:n.*93A>G
XM_005257058.4:c.*93A>G XP_005257115.2:n.*93A>G
XM_005257059.4:c.*93A>G XP_005257116.2:n.*93A>G
NM_000088.4:c.*93A>G MANE Select NP_000079.2:n.*93A>G
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