Canonical Allele Identifier: CA400224340
Gene: COL1A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.48274594C>G (hg19) chr17:g.50197233C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50197233C>G , CM000679.2:g.50197233C>G GRCh38
NC_000017.10:g.48274594C>G , CM000679.1:g.48274594C>G GRCh37
NC_000017.9:g.45629593C>G NCBI36
NG_007400.1:g.9407G>C , LRG_1:g.9407G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.697G>C MANE Select ENSP00000225964.6:p.Gly233Arg
ENST00000225964.9:c.697G>C ENSP00000225964.5:p.Gly233Arg
ENST00000495677.1:n.424G>C
NM_000088.3:c.697G>C , LRG_1t1:c.697G>C NP_000079.2:p.Gly233Arg
XM_005257058.3:c.697G>C XP_005257115.2:p.Gly233Arg
XM_005257059.3:c.697G>C XP_005257116.2:p.Gly233Arg
XM_011524341.1:c.697G>C XP_011522643.1:p.Gly233Arg
XM_005257058.4:c.697G>C XP_005257115.2:p.Gly233Arg
XM_005257059.4:c.697G>C XP_005257116.2:p.Gly233Arg
NM_000088.4:c.697G>C MANE Select NP_000079.2:p.Gly233Arg
Search 100 bp 5'
Search 100 bp 3'