Canonical Allele Identifier: CA2263920631

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199304T= , CM000679.2:g.50199304T=	GRCh38
NC_000017.10:g.48276665T= , CM000679.1:g.48276665T=	GRCh37
NC_000017.9:g.45631664T=	NCBI36
NG_007400.1:g.7336A= , LRG_1:g.7336A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.393A= MANE Select	ENSP00000225964.6:p.Arg131=
ENST00000225964.9:c.393A=	ENSP00000225964.5:p.Arg131=
ENST00000474644.1:n.614A=
ENST00000507689.1:c.447A=	ENSP00000460459.1:p.Arg149=
NM_000088.3:c.393A= , LRG_1t1:c.393A=	NP_000079.2:p.Arg131=
XM_005257058.3:c.393A=	XP_005257115.2:p.Arg131=
XM_005257059.3:c.393A=	XP_005257116.2:p.Arg131=
XM_011524341.1:c.393A=	XP_011522643.1:p.Arg131=
XM_005257058.4:c.393A=	XP_005257115.2:p.Arg131=
XM_005257059.4:c.393A=	XP_005257116.2:p.Arg131=
NM_000088.4:c.393A= MANE Select	NP_000079.2:p.Arg131=