Canonical Allele Identifier: CA2263916161

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190351G= , CM000679.2:g.50190351G=	GRCh38
NC_000017.10:g.48267712G= , CM000679.1:g.48267712G=	GRCh37
NC_000017.9:g.45622711G=	NCBI36
NG_007400.1:g.16289C= , LRG_1:g.16289C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2427C= MANE Select	ENSP00000225964.6:p.Gly809=
ENST00000225964.9:c.2427C=	ENSP00000225964.5:p.Gly809=
ENST00000494334.1:n.354C=
NM_000088.3:c.2427C= , LRG_1t1:c.2427C=	NP_000079.2:p.Gly809=
XM_005257058.3:c.2427C=	XP_005257115.2:p.Gly809=
XM_005257059.3:c.1509C=	XP_005257116.2:p.Gly503=
XM_011524341.1:c.2229C=	XP_011522643.1:p.Gly743=
XM_005257058.4:c.2427C=	XP_005257115.2:p.Gly809=
XM_005257059.4:c.1509C=	XP_005257116.2:p.Gly503=
NM_000088.4:c.2427C= MANE Select	NP_000079.2:p.Gly809=