Canonical Allele Identifier: CA2263915004

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188148C= , CM000679.2:g.50188148C=	GRCh38
NC_000017.10:g.48265509C= , CM000679.1:g.48265509C=	GRCh37
NC_000017.9:g.45620508C=	NCBI36
NG_007400.1:g.18492G= , LRG_1:g.18492G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3209G= MANE Select	ENSP00000225964.6:p.Gly1070=
ENST00000225964.9:c.3209G=	ENSP00000225964.5:p.Gly1070=
ENST00000486572.1:n.407G=
ENST00000511732.1:n.533G=
NM_000088.3:c.3209G= , LRG_1t1:c.3209G=	NP_000079.2:p.Gly1070=
XM_005257058.3:c.2939G=	XP_005257115.2:p.Gly980=
XM_005257059.3:c.2291G=	XP_005257116.2:p.Gly764=
XM_011524341.1:c.3011G=	XP_011522643.1:p.Gly1004=
XM_005257058.4:c.2939G=	XP_005257115.2:p.Gly980=
XM_005257059.4:c.2291G=	XP_005257116.2:p.Gly764=
NM_000088.4:c.3209G= MANE Select	NP_000079.2:p.Gly1070=