Canonical Allele Identifier: CA2263916864

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191853G= , CM000679.2:g.50191853G=	GRCh38
NC_000017.10:g.48269214G= , CM000679.1:g.48269214G=	GRCh37
NC_000017.9:g.45624213G=	NCBI36
NG_007400.1:g.14787C= , LRG_1:g.14787C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2062C= MANE Select	NP_000079.2:p.Gln688=
ENST00000225964.10:c.2062C= MANE Select	ENSP00000225964.6:p.Gln688=
NM_000088.3:c.2062C= , LRG_1t1:c.2062C=	NP_000079.2:p.Gln688=
ENST00000225964.9:c.2062C=	ENSP00000225964.5:p.Gln688=
ENST00000476387.1:n.411C=
XM_005257058.3:c.2062C=	XP_005257115.2:p.Gln688=
XM_005257058.4:c.2062C=	XP_005257115.2:p.Gln688=
XM_005257059.3:c.1144C=	XP_005257116.2:p.Gln382=
XM_005257059.4:c.1144C=	XP_005257116.2:p.Gln382=
XM_011524341.1:c.1864C=	XP_011522643.1:p.Gln622=