Canonical Allele Identifier: CA2263919579

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197056C= , CM000679.2:g.50197056C=	GRCh38
NC_000017.10:g.48274417C= , CM000679.1:g.48274417C=	GRCh37
NC_000017.9:g.45629416C=	NCBI36
NG_007400.1:g.9584G= , LRG_1:g.9584G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.758G= MANE Select	ENSP00000225964.6:p.Arg253=
ENST00000225964.9:c.758G=	ENSP00000225964.5:p.Arg253=
ENST00000495677.1:n.485G=
NM_000088.3:c.758G= , LRG_1t1:c.758G=	NP_000079.2:p.Arg253=
XM_005257058.3:c.758G=	XP_005257115.2:p.Arg253=
XM_005257059.3:c.758G=	XP_005257116.2:p.Arg253=
XM_011524341.1:c.758G=	XP_011522643.1:p.Arg253=
XM_005257058.4:c.758G=	XP_005257115.2:p.Arg253=
XM_005257059.4:c.758G=	XP_005257116.2:p.Arg253=
NM_000088.4:c.758G= MANE Select	NP_000079.2:p.Arg253=