Canonical Allele Identifier: CA2263917941

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193954T= , CM000679.2:g.50193954T=	GRCh38
NC_000017.10:g.48271315T= , CM000679.1:g.48271315T=	GRCh37
NC_000017.9:g.45626314T=	NCBI36
NG_007400.1:g.12686A= , LRG_1:g.12686A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1756A= MANE Select	ENSP00000225964.6:p.Lys586=
ENST00000225964.9:c.1756A=	ENSP00000225964.5:p.Lys586=
ENST00000463440.1:n.146A=
ENST00000471344.1:n.788A=
ENST00000476387.1:n.105A=
NM_000088.3:c.1756A= , LRG_1t1:c.1756A=	NP_000079.2:p.Lys586=
XM_005257058.3:c.1756A=	XP_005257115.2:p.Lys586=
XM_005257059.3:c.958-1261A=	XP_005257116.2:n.958-1261A=
XM_011524341.1:c.1558A=	XP_011522643.1:p.Lys520=
XM_005257058.4:c.1756A=	XP_005257115.2:p.Lys586=
XM_005257059.4:c.958-1261A=	XP_005257116.2:n.958-1261A=
NM_000088.4:c.1756A= MANE Select	NP_000079.2:p.Lys586=