Canonical Allele Identifier: CA8644180
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2182621
ClinVar RCV Id: RCV002592108 RCV003161941
dbSNP Id: rs748650672
ExAC: 17:48262935 A / G
gnomAD v2: 17-48262935-A-G
gnomAD v3: 17-50185574-A-G
gnomAD v4: 17-50185574-A-G
MyVariant Identifiers: chr17:g.48262935A>G (hg19) chr17:g.50185574A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185574A>G , CM000679.2:g.50185574A>G GRCh38
NC_000017.10:g.48262935A>G , CM000679.1:g.48262935A>G GRCh37
NC_000017.9:g.45617934A>G NCBI36
NG_007400.1:g.21066T>C , LRG_1:g.21066T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4323T>C MANE Select ENSP00000225964.6:p.Asp1441=
ENST00000225964.9:c.4323T>C ENSP00000225964.5:p.Asp1441=
NM_000088.3:c.4323T>C , LRG_1t1:c.4323T>C NP_000079.2:p.Asp1441=
XM_005257058.3:c.4053T>C XP_005257115.2:p.Asp1351=
XM_005257059.3:c.3405T>C XP_005257116.2:p.Asp1135=
XM_011524341.1:c.4125T>C XP_011522643.1:p.Asp1375=
XM_005257058.4:c.4053T>C XP_005257115.2:p.Asp1351=
XM_005257059.4:c.3405T>C XP_005257116.2:p.Asp1135=
NM_000088.4:c.4323T>C MANE Select NP_000079.2:p.Asp1441=
Search 100 bp 5'
Search 100 bp 3'