Canonical Allele Identifier: CA400191629

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1306141
• ClinVar RCV Id: RCV001767094
• dbSNP Id: rs1598284064
• MyVariant Identifiers: chr17:g.48263188G>T (hg19) ; chr17:g.50185827G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185827G>T , CM000679.2:g.50185827G>T	GRCh38
NC_000017.10:g.48263188G>T , CM000679.1:g.48263188G>T	GRCh37
NC_000017.9:g.45618187G>T	NCBI36
NG_007400.1:g.20813C>A , LRG_1:g.20813C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4199C>A MANE Select	ENSP00000225964.6:p.Ala1400Asp
ENST00000225964.9:c.4199C>A	ENSP00000225964.5:p.Ala1400Asp
NM_000088.3:c.4199C>A , LRG_1t1:c.4199C>A	NP_000079.2:p.Ala1400Asp
XM_005257058.3:c.3929C>A	XP_005257115.2:p.Ala1310Asp
XM_005257059.3:c.3281C>A	XP_005257116.2:p.Ala1094Asp
XM_011524341.1:c.4001C>A	XP_011522643.1:p.Ala1334Asp
XM_005257058.4:c.3929C>A	XP_005257115.2:p.Ala1310Asp
XM_005257059.4:c.3281C>A	XP_005257116.2:p.Ala1094Asp
NM_000088.4:c.4199C>A MANE Select	NP_000079.2:p.Ala1400Asp