Canonical Allele Identifier: CA2263920630

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199302T= , CM000679.2:g.50199302T=	GRCh38
NC_000017.10:g.48276663T= , CM000679.1:g.48276663T=	GRCh37
NC_000017.9:g.45631662T=	NCBI36
NG_007400.1:g.7338A= , LRG_1:g.7338A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.395A= MANE Select	ENSP00000225964.6:p.Asp132=
ENST00000225964.9:c.395A=	ENSP00000225964.5:p.Asp132=
ENST00000474644.1:n.616A=
ENST00000507689.1:c.449A=	ENSP00000460459.1:p.Asp150=
NM_000088.3:c.395A= , LRG_1t1:c.395A=	NP_000079.2:p.Asp132=
XM_005257058.3:c.395A=	XP_005257115.2:p.Asp132=
XM_005257059.3:c.395A=	XP_005257116.2:p.Asp132=
XM_011524341.1:c.395A=	XP_011522643.1:p.Asp132=
XM_005257058.4:c.395A=	XP_005257115.2:p.Asp132=
XM_005257059.4:c.395A=	XP_005257116.2:p.Asp132=
NM_000088.4:c.395A= MANE Select	NP_000079.2:p.Asp132=