Canonical Allele Identifier: CA8645806

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324121
• ClinVar RCV Id: RCV000278484 ; RCV000323135 ; RCV000380061 ; RCV002522989
• dbSNP Id: rs753683126
• ExAC: 17:48277183 C / T
• gnomAD v2: 17-48277183-C-T
• gnomAD v4: 17-50199822-C-T
• COSMIC: COSM3519056
• MyVariant Identifiers: chr17:g.48277183C>T (hg19) ; chr17:g.50199822C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199822C>T , CM000679.2:g.50199822C>T	GRCh38
NC_000017.10:g.48277183C>T , CM000679.1:g.48277183C>T	GRCh37
NC_000017.9:g.45632182C>T	NCBI36
NG_007400.1:g.6818G>A , LRG_1:g.6818G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.229G>A MANE Select	ENSP00000225964.6:p.Glu77Lys
ENST00000225964.9:c.229G>A	ENSP00000225964.5:p.Glu77Lys
ENST00000474644.1:n.348G>A
ENST00000507689.1:c.283G>A	ENSP00000460459.1:p.Glu95Lys
NM_000088.3:c.229G>A , LRG_1t1:c.229G>A	NP_000079.2:p.Glu77Lys
XM_005257058.3:c.229G>A	XP_005257115.2:p.Glu77Lys
XM_005257059.3:c.229G>A	XP_005257116.2:p.Glu77Lys
XM_011524341.1:c.229G>A	XP_011522643.1:p.Glu77Lys
XM_005257058.4:c.229G>A	XP_005257115.2:p.Glu77Lys
XM_005257059.4:c.229G>A	XP_005257116.2:p.Glu77Lys
NM_000088.4:c.229G>A MANE Select	NP_000079.2:p.Glu77Lys