Canonical Allele Identifier: CA8644252

Gene: COL1A1

Linked Data

• dbSNP Id: rs765712898
• ExAC: 17:48263243 C / A
• gnomAD v2: 17-48263243-C-A
• gnomAD v4: 17-50185882-C-A
• MyVariant Identifiers: chr17:g.48263243C>A (hg19) ; chr17:g.50185882C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185882C>A , CM000679.2:g.50185882C>A	GRCh38
NC_000017.10:g.48263243C>A , CM000679.1:g.48263243C>A	GRCh37
NC_000017.9:g.45618242C>A	NCBI36
NG_007400.1:g.20758G>T , LRG_1:g.20758G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4144G>T MANE Select	ENSP00000225964.6:p.Gly1382Cys
ENST00000225964.9:c.4144G>T	ENSP00000225964.5:p.Gly1382Cys
ENST00000510710.3:n.1109G>T
NM_000088.3:c.4144G>T , LRG_1t1:c.4144G>T	NP_000079.2:p.Gly1382Cys
XM_005257058.3:c.3874G>T	XP_005257115.2:p.Gly1292Cys
XM_005257059.3:c.3226G>T	XP_005257116.2:p.Gly1076Cys
XM_011524341.1:c.3946G>T	XP_011522643.1:p.Gly1316Cys
XM_005257058.4:c.3874G>T	XP_005257115.2:p.Gly1292Cys
XM_005257059.4:c.3226G>T	XP_005257116.2:p.Gly1076Cys
NM_000088.4:c.4144G>T MANE Select	NP_000079.2:p.Gly1382Cys