Canonical Allele Identifier: CA2263913850

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185790G= , CM000679.2:g.50185790G=	GRCh38
NC_000017.10:g.48263151G= , CM000679.1:g.48263151G=	GRCh37
NC_000017.9:g.45618150G=	NCBI36
NG_007400.1:g.20850C= , LRG_1:g.20850C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4236C= MANE Select	ENSP00000225964.6:p.Val1412=
ENST00000225964.9:c.4236C=	ENSP00000225964.5:p.Val1412=
NM_000088.3:c.4236C= , LRG_1t1:c.4236C=	NP_000079.2:p.Val1412=
XM_005257058.3:c.3966C=	XP_005257115.2:p.Val1322=
XM_005257059.3:c.3318C=	XP_005257116.2:p.Val1106=
XM_011524341.1:c.4038C=	XP_011522643.1:p.Val1346=
XM_005257058.4:c.3966C=	XP_005257115.2:p.Val1322=
XM_005257059.4:c.3318C=	XP_005257116.2:p.Val1106=
NM_000088.4:c.4236C= MANE Select	NP_000079.2:p.Val1412=