Canonical Allele Identifier: CA2263918037

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194142T= , CM000679.2:g.50194142T=	GRCh38
NC_000017.10:g.48271503T= , CM000679.1:g.48271503T=	GRCh37
NC_000017.9:g.45626502T=	NCBI36
NG_007400.1:g.12498A= , LRG_1:g.12498A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1656A= MANE Select	ENSP00000225964.6:p.Lys552=
ENST00000225964.9:c.1656A=	ENSP00000225964.5:p.Lys552=
ENST00000463440.1:n.46A=
ENST00000471344.1:n.600A=
NM_000088.3:c.1656A= , LRG_1t1:c.1656A=	NP_000079.2:p.Lys552=
XM_005257058.3:c.1656A=	XP_005257115.2:p.Lys552=
XM_005257059.3:c.958-1449A=	XP_005257116.2:n.958-1449A=
XM_011524341.1:c.1458A=	XP_011522643.1:p.Lys486=
XM_005257058.4:c.1656A=	XP_005257115.2:p.Lys552=
XM_005257059.4:c.958-1449A=	XP_005257116.2:n.958-1449A=
NM_000088.4:c.1656A= MANE Select	NP_000079.2:p.Lys552=