Canonical Allele Identifier: CA2263919196

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196314A= , CM000679.2:g.50196314A=	GRCh38
NC_000017.10:g.48273675A= , CM000679.1:g.48273675A=	GRCh37
NC_000017.9:g.45628674A=	NCBI36
NG_007400.1:g.10326T= , LRG_1:g.10326T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.957T= MANE Select	ENSP00000225964.6:p.Ala319=
ENST00000225964.9:c.957T=	ENSP00000225964.5:p.Ala319=
ENST00000485870.1:n.282T=
NM_000088.3:c.957T= , LRG_1t1:c.957T=	NP_000079.2:p.Ala319=
XM_005257058.3:c.957T=	XP_005257115.2:p.Ala319=
XM_005257059.3:c.957T=	XP_005257116.2:p.Ala319=
XM_011524341.1:c.957T=	XP_011522643.1:p.Ala319=
XM_005257058.4:c.957T=	XP_005257115.2:p.Ala319=
XM_005257059.4:c.957T=	XP_005257116.2:p.Ala319=
NM_000088.4:c.957T= MANE Select	NP_000079.2:p.Ala319=