Canonical Allele Identifier: CA2263916622

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191390C= , CM000679.2:g.50191390C=	GRCh38
NC_000017.10:g.48268751C= , CM000679.1:g.48268751C=	GRCh37
NC_000017.9:g.45623750C=	NCBI36
NG_007400.1:g.15250G= , LRG_1:g.15250G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2228G= MANE Select	NP_000079.2:p.Gly743=
ENST00000225964.10:c.2228G= MANE Select	ENSP00000225964.6:p.Gly743=
NM_000088.3:c.2228G= , LRG_1t1:c.2228G=	NP_000079.2:p.Gly743=
ENST00000225964.9:c.2228G=	ENSP00000225964.5:p.Gly743=
ENST00000476387.1:n.577G=
XM_005257058.3:c.2228G=	XP_005257115.2:p.Gly743=
XM_005257058.4:c.2228G=	XP_005257115.2:p.Gly743=
XM_005257059.3:c.1310G=	XP_005257116.2:p.Gly437=
XM_005257059.4:c.1310G=	XP_005257116.2:p.Gly437=
XM_011524341.1:c.2030G=	XP_011522643.1:p.Gly677=