Canonical Allele Identifier: CA2263913879

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185843C= , CM000679.2:g.50185843C=	GRCh38
NC_000017.10:g.48263204C= , CM000679.1:g.48263204C=	GRCh37
NC_000017.9:g.45618203C=	NCBI36
NG_007400.1:g.20797G= , LRG_1:g.20797G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4183G= MANE Select	ENSP00000225964.6:p.Glu1395=
ENST00000225964.9:c.4183G=	ENSP00000225964.5:p.Glu1395=
NM_000088.3:c.4183G= , LRG_1t1:c.4183G=	NP_000079.2:p.Glu1395=
XM_005257058.3:c.3913G=	XP_005257115.2:p.Glu1305=
XM_005257059.3:c.3265G=	XP_005257116.2:p.Glu1089=
XM_011524341.1:c.3985G=	XP_011522643.1:p.Glu1329=
XM_005257058.4:c.3913G=	XP_005257115.2:p.Glu1305=
XM_005257059.4:c.3265G=	XP_005257116.2:p.Glu1089=
NM_000088.4:c.4183G= MANE Select	NP_000079.2:p.Glu1395=