Canonical Allele Identifier: CA2263917969

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194020G= , CM000679.2:g.50194020G=	GRCh38
NC_000017.10:g.48271381G= , CM000679.1:g.48271381G=	GRCh37
NC_000017.9:g.45626380G=	NCBI36
NG_007400.1:g.12620C= , LRG_1:g.12620C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1690C= MANE Select	ENSP00000225964.6:p.Arg564=
ENST00000225964.9:c.1690C=	ENSP00000225964.5:p.Arg564=
ENST00000463440.1:n.80C=
ENST00000471344.1:n.722C=
ENST00000476387.1:n.39C=
NM_000088.3:c.1690C= , LRG_1t1:c.1690C=	NP_000079.2:p.Arg564=
XM_005257058.3:c.1690C=	XP_005257115.2:p.Arg564=
XM_005257059.3:c.958-1327C=	XP_005257116.2:n.958-1327C=
XM_011524341.1:c.1492C=	XP_011522643.1:p.Arg498=
XM_005257058.4:c.1690C=	XP_005257115.2:p.Arg564=
XM_005257059.4:c.958-1327C=	XP_005257116.2:n.958-1327C=
NM_000088.4:c.1690C= MANE Select	NP_000079.2:p.Arg564=