Canonical Allele Identifier: CA2499224733

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1074716
• ClinVar RCV Id: RCV001388122
• dbSNP Id: rs2144572928
• gnomAD v4: 17-50194730-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194735del , CM000679.2:g.50194735del	GRCh38
NC_000017.10:g.48272096del , CM000679.1:g.48272096del	GRCh37
NC_000017.9:g.45627095del	NCBI36
NG_007400.1:g.11909del , LRG_1:g.11909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1451del MANE Select	ENSP00000225964.6:p.Pro484LeufsTer?
ENST00000225964.9:c.1451del	ENSP00000225964.5:p.Pro484LeufsTer?
ENST00000471344.1:n.395del
NM_000088.3:c.1451del , LRG_1t1:c.1451del	NP_000079.2:p.Pro484LeufsTer?
XM_005257058.3:c.1451del	XP_005257115.2:p.Pro484LeufsTer?
XM_005257059.3:c.957+1583del	XP_005257116.2:n.957+1583del
XM_011524341.1:c.1253del	XP_011522643.1:p.Pro418LeufsTer?
XM_005257058.4:c.1451del	XP_005257115.2:p.Pro484LeufsTer?
XM_005257059.4:c.957+1583del	XP_005257116.2:n.957+1583del
NM_000088.4:c.1451del MANE Select	NP_000079.2:p.Pro484LeufsTer?