Canonical Allele Identifier: CA260302
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 35917
ClinVar RCV Id: RCV000029572
dbSNP Id: rs193922152
MyVariant Identifiers: chr17:g.48266569T>C (hg19) chr17:g.50189208T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50189208T>C , CM000679.2:g.50189208T>C GRCh38
NC_000017.10:g.48266569T>C , CM000679.1:g.48266569T>C GRCh37
NC_000017.9:g.45621568T>C NCBI36
NG_007400.1:g.17432A>G , LRG_1:g.17432A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000225964.10:c.2897A>G MANE Select ENSP00000225964.6:p.Gln966Arg
ENST00000225964.9:c.2897A>G ENSP00000225964.5:p.Gln966Arg
NM_000088.3:c.2897A>G , LRG_1t1:c.2897A>G NP_000079.2:p.Gln966Arg
XM_005257058.3:c.2668-198A>G XP_005257115.2:n.2668-198A>G
XM_005257059.3:c.1979A>G XP_005257116.2:p.Gln660Arg
XM_011524341.1:c.2699A>G XP_011522643.1:p.Gln900Arg
XM_005257058.4:c.2668-198A>G XP_005257115.2:n.2668-198A>G
XM_005257059.4:c.1979A>G XP_005257116.2:p.Gln660Arg
NM_000088.4:c.2897A>G MANE Select NP_000079.2:p.Gln966Arg
Search 100 bp 5'
Search 100 bp 3'