Canonical Allele Identifier: CA400191675
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428514
ClinVar RCV Id: RCV003120115 RCV003517446
dbSNP Id: rs754481870
gnomAD v2: 17-48263195-T-C
gnomAD v4: 17-50185834-T-C
MyVariant Identifiers: chr17:g.48263195T>C (hg19) chr17:g.50185834T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50185834T>C , CM000679.2:g.50185834T>C GRCh38
NC_000017.10:g.48263195T>C , CM000679.1:g.48263195T>C GRCh37
NC_000017.9:g.45618194T>C NCBI36
NG_007400.1:g.20806A>G , LRG_1:g.20806A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.4192A>G MANE Select ENSP00000225964.6:p.Ile1398Val
ENST00000225964.9:c.4192A>G ENSP00000225964.5:p.Ile1398Val
NM_000088.3:c.4192A>G , LRG_1t1:c.4192A>G NP_000079.2:p.Ile1398Val
XM_005257058.3:c.3922A>G XP_005257115.2:p.Ile1308Val
XM_005257059.3:c.3274A>G XP_005257116.2:p.Ile1092Val
XM_011524341.1:c.3994A>G XP_011522643.1:p.Ile1332Val
XM_005257058.4:c.3922A>G XP_005257115.2:p.Ile1308Val
XM_005257059.4:c.3274A>G XP_005257116.2:p.Ile1092Val
NM_000088.4:c.4192A>G MANE Select NP_000079.2:p.Ile1398Val
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Search 100 bp 3'