Canonical Allele Identifier: CA291542744
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 889273
ClinVar RCV Id: RCV001123096 RCV001123094 RCV001123095
dbSNP Id: rs1061237
gnomAD v2: 17-48262775-A-T
gnomAD v3: 17-50185414-A-T
gnomAD v4: 17-50185414-A-T
MyVariant Identifiers: chr17:g.48262775A>T (hg19) chr17:g.50185414A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185414A>T , CM000679.2:g.50185414A>T GRCh38
NC_000017.10:g.48262775A>T , CM000679.1:g.48262775A>T GRCh37
NC_000017.9:g.45617774A>T NCBI36
NG_007400.1:g.21226T>A , LRG_1:g.21226T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.*88T>A MANE Select ENSP00000225964.6:n.*88T>A
ENST00000225964.9:c.*88T>A ENSP00000225964.5:n.*88T>A
NM_000088.3:c.*88T>A , LRG_1t1:c.*88T>A NP_000079.2:n.*88T>A
XM_005257058.3:c.*88T>A XP_005257115.2:n.*88T>A
XM_005257059.3:c.*88T>A XP_005257116.2:n.*88T>A
XM_011524341.1:c.*88T>A XP_011522643.1:n.*88T>A
XM_005257058.4:c.*88T>A XP_005257115.2:n.*88T>A
XM_005257059.4:c.*88T>A XP_005257116.2:n.*88T>A
NM_000088.4:c.*88T>A MANE Select NP_000079.2:n.*88T>A
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