Canonical Allele Identifier: CA8645698
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2718646
ClinVar RCV Id: RCV003518330
dbSNP Id: rs781774588
ExAC: 17:48276592 C / T
gnomAD v2: 17-48276592-C-T
gnomAD v3: 17-50199231-C-T
gnomAD v4: 17-50199231-C-T
MyVariant Identifiers: chr17:g.48276592C>T (hg19) chr17:g.50199231C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50199231C>T , CM000679.2:g.50199231C>T GRCh38
NC_000017.10:g.48276592C>T , CM000679.1:g.48276592C>T GRCh37
NC_000017.9:g.45631591C>T NCBI36
NG_007400.1:g.7409G>A , LRG_1:g.7409G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000225964.10:c.466G>A MANE Select ENSP00000225964.6:p.Gly156Arg
ENST00000225964.9:c.466G>A ENSP00000225964.5:p.Gly156Arg
NM_000088.3:c.466G>A , LRG_1t1:c.466G>A NP_000079.2:p.Gly156Arg
XM_005257058.3:c.466G>A XP_005257115.2:p.Gly156Arg
XM_005257059.3:c.466G>A XP_005257116.2:p.Gly156Arg
XM_011524341.1:c.466G>A XP_011522643.1:p.Gly156Arg
XM_005257058.4:c.466G>A XP_005257115.2:p.Gly156Arg
XM_005257059.4:c.466G>A XP_005257116.2:p.Gly156Arg
NM_000088.4:c.466G>A MANE Select NP_000079.2:p.Gly156Arg
Search 100 bp 5'
Search 100 bp 3'