Canonical Allele Identifier: CA2263919120

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196182A= , CM000679.2:g.50196182A=	GRCh38
NC_000017.10:g.48273543A= , CM000679.1:g.48273543A=	GRCh37
NC_000017.9:g.45628542A=	NCBI36
NG_007400.1:g.10458T= , LRG_1:g.10458T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.975T= MANE Select	ENSP00000225964.6:p.Asp325=
ENST00000225964.9:c.975T=	ENSP00000225964.5:p.Asp325=
ENST00000485870.1:n.300T=
NM_000088.3:c.975T= , LRG_1t1:c.975T=	NP_000079.2:p.Asp325=
XM_005257058.3:c.975T=	XP_005257115.2:p.Asp325=
XM_005257059.3:c.957+132T=	XP_005257116.2:n.957+132T=
XM_011524341.1:c.957+132T=	XP_011522643.1:n.957+132T=
XM_005257058.4:c.975T=	XP_005257115.2:p.Asp325=
XM_005257059.4:c.957+132T=	XP_005257116.2:n.957+132T=
NM_000088.4:c.975T= MANE Select	NP_000079.2:p.Asp325=