Canonical Allele Identifier: CA400191690

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2575567
• ClinVar RCV Id: RCV003321133
• gnomAD v4: 17-50185837-C-T
• MyVariant Identifiers: chr17:g.48263198C>T (hg19) ; chr17:g.50185837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185837C>T , CM000679.2:g.50185837C>T	GRCh38
NC_000017.10:g.48263198C>T , CM000679.1:g.48263198C>T	GRCh37
NC_000017.9:g.45618197C>T	NCBI36
NG_007400.1:g.20803G>A , LRG_1:g.20803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4189G>A MANE Select	ENSP00000225964.6:p.Glu1397Lys
ENST00000225964.9:c.4189G>A	ENSP00000225964.5:p.Glu1397Lys
NM_000088.3:c.4189G>A , LRG_1t1:c.4189G>A	NP_000079.2:p.Glu1397Lys
XM_005257058.3:c.3919G>A	XP_005257115.2:p.Glu1307Lys
XM_005257059.3:c.3271G>A	XP_005257116.2:p.Glu1091Lys
XM_011524341.1:c.3991G>A	XP_011522643.1:p.Glu1331Lys
XM_005257058.4:c.3919G>A	XP_005257115.2:p.Glu1307Lys
XM_005257059.4:c.3271G>A	XP_005257116.2:p.Glu1091Lys
NM_000088.4:c.4189G>A MANE Select	NP_000079.2:p.Glu1397Lys