Canonical Allele Identifier: CA2580612666

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1431064
• ClinVar RCV Id: RCV001952615
• dbSNP Id: rs2144563856

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192680_50192681del , CM000679.2:g.50192680_50192681del	GRCh38
NC_000017.10:g.48270041_48270042del , CM000679.1:g.48270041_48270042del	GRCh37
NC_000017.9:g.45625040_45625041del	NCBI36
NG_007400.1:g.13964_13965del , LRG_1:g.13964_13965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1893_1894del MANE Select	ENSP00000225964.6:p.Gly632Ter
ENST00000225964.9:c.1893_1894del	ENSP00000225964.5:p.Gly632Ter
ENST00000476387.1:n.242_243del
NM_000088.3:c.1893_1894del , LRG_1t1:c.1893_1894del	NP_000079.2:p.Gly632Ter
XM_005257058.3:c.1893_1894del	XP_005257115.2:p.Gly632Ter
XM_005257059.3:c.975_976del	XP_005257116.2:p.Gly326Ter
XM_011524341.1:c.1695_1696del	XP_011522643.1:p.Gly566Ter
XM_005257058.4:c.1893_1894del	XP_005257115.2:p.Gly632Ter
XM_005257059.4:c.975_976del	XP_005257116.2:p.Gly326Ter
NM_000088.4:c.1893_1894del MANE Select	NP_000079.2:p.Gly632Ter