Canonical Allele Identifier: CA291545437

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 597595
• ClinVar RCV Id: RCV000733766 ; RCV001868989
• dbSNP Id: rs72648346
• MyVariant Identifiers: chr17:g.48272091del (hg19) ; chr17:g.50194730del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194730del , CM000679.2:g.50194730del	GRCh38
NC_000017.10:g.48272091del , CM000679.1:g.48272091del	GRCh37
NC_000017.9:g.45627090del	NCBI36
NG_007400.1:g.11910del , LRG_1:g.11910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1452del MANE Select	ENSP00000225964.6:p.Gly485AlafsTer?
ENST00000225964.9:c.1452del	ENSP00000225964.5:p.Gly485AlafsTer?
ENST00000471344.1:n.396del
NM_000088.3:c.1452del , LRG_1t1:c.1452del	NP_000079.2:p.Gly485AlafsTer?
XM_005257058.3:c.1452del	XP_005257115.2:p.Gly485AlafsTer?
XM_005257059.3:c.957+1584del	XP_005257116.2:n.957+1584del
XM_011524341.1:c.1254del	XP_011522643.1:p.Gly419AlafsTer?
XM_005257058.4:c.1452del	XP_005257115.2:p.Gly485AlafsTer?
XM_005257059.4:c.957+1584del	XP_005257116.2:n.957+1584del
NM_000088.4:c.1452del MANE Select	NP_000079.2:p.Gly485AlafsTer?