Canonical Allele Identifier: CA8644456

Gene: COL1A1

Linked Data

• dbSNP Id: rs72656314
• ExAC: 17:48264847 G / T
• gnomAD v2: 17-48264847-G-T
• gnomAD v4: 17-50187486-G-T
• MyVariant Identifiers: chr17:g.48264847G>T (hg19) ; chr17:g.50187486G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50187486G>T , CM000679.2:g.50187486G>T	GRCh38
NC_000017.10:g.48264847G>T , CM000679.1:g.48264847G>T	GRCh37
NC_000017.9:g.45619846G>T	NCBI36
NG_007400.1:g.19154C>A , LRG_1:g.19154C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3421C>A MANE Select	ENSP00000225964.6:p.Arg1141=
ENST00000225964.9:c.3421C>A	ENSP00000225964.5:p.Arg1141=
NM_000088.3:c.3421C>A , LRG_1t1:c.3421C>A	NP_000079.2:p.Arg1141=
XM_005257058.3:c.3151C>A	XP_005257115.2:p.Arg1051=
XM_005257059.3:c.2503C>A	XP_005257116.2:p.Arg835=
XM_011524341.1:c.3223C>A	XP_011522643.1:p.Arg1075=
XM_005257058.4:c.3151C>A	XP_005257115.2:p.Arg1051=
XM_005257059.4:c.2503C>A	XP_005257116.2:p.Arg835=
NM_000088.4:c.3421C>A MANE Select	NP_000079.2:p.Arg1141=