Canonical Allele Identifier: CA400191211

Gene: COL1A1

Linked Data

• dbSNP Id: rs1361759220
• gnomAD v2: 17-48263146-C-T
• gnomAD v4: 17-50185785-C-T
• MyVariant Identifiers: chr17:g.48263146C>T (hg19) ; chr17:g.50185785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185785C>T , CM000679.2:g.50185785C>T	GRCh38
NC_000017.10:g.48263146C>T , CM000679.1:g.48263146C>T	GRCh37
NC_000017.9:g.45618145C>T	NCBI36
NG_007400.1:g.20855G>A , LRG_1:g.20855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4241G>A MANE Select	ENSP00000225964.6:p.Gly1414Asp
ENST00000225964.9:c.4241G>A	ENSP00000225964.5:p.Gly1414Asp
NM_000088.3:c.4241G>A , LRG_1t1:c.4241G>A	NP_000079.2:p.Gly1414Asp
XM_005257058.3:c.3971G>A	XP_005257115.2:p.Gly1324Asp
XM_005257059.3:c.3323G>A	XP_005257116.2:p.Gly1108Asp
XM_011524341.1:c.4043G>A	XP_011522643.1:p.Gly1348Asp
XM_005257058.4:c.3971G>A	XP_005257115.2:p.Gly1324Asp
XM_005257059.4:c.3323G>A	XP_005257116.2:p.Gly1108Asp
NM_000088.4:c.4241G>A MANE Select	NP_000079.2:p.Gly1414Asp