Canonical Allele Identifier: CA291544260

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1072431
• ClinVar RCV Id: RCV001385151
• dbSNP Id: rs66489346

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192684del , CM000679.2:g.50192684del	GRCh38
NC_000017.10:g.48270045del , CM000679.1:g.48270045del	GRCh37
NC_000017.9:g.45625044del	NCBI36
NG_007400.1:g.13957del , LRG_1:g.13957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1886del MANE Select	ENSP00000225964.6:p.Gly629AlafsTer?
ENST00000225964.9:c.1886del	ENSP00000225964.5:p.Gly629AlafsTer?
ENST00000476387.1:n.235del
NM_000088.3:c.1886del , LRG_1t1:c.1886del	NP_000079.2:p.Gly629AlafsTer?
XM_005257058.3:c.1886del	XP_005257115.2:p.Gly629AlafsTer?
XM_005257059.3:c.968del	XP_005257116.2:p.Gly323AlafsTer?
XM_011524341.1:c.1688del	XP_011522643.1:p.Gly563AlafsTer?
XM_005257058.4:c.1886del	XP_005257115.2:p.Gly629AlafsTer?
XM_005257059.4:c.968del	XP_005257116.2:p.Gly323AlafsTer?
NM_000088.4:c.1886del MANE Select	NP_000079.2:p.Gly629AlafsTer?