Canonical Allele Identifier: CA2263913852

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185792C= , CM000679.2:g.50185792C=	GRCh38
NC_000017.10:g.48263153C= , CM000679.1:g.48263153C=	GRCh37
NC_000017.9:g.45618152C=	NCBI36
NG_007400.1:g.20848G= , LRG_1:g.20848G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4234G= MANE Select	ENSP00000225964.6:p.Val1412=
ENST00000225964.9:c.4234G=	ENSP00000225964.5:p.Val1412=
NM_000088.3:c.4234G= , LRG_1t1:c.4234G=	NP_000079.2:p.Val1412=
XM_005257058.3:c.3964G=	XP_005257115.2:p.Val1322=
XM_005257059.3:c.3316G=	XP_005257116.2:p.Val1106=
XM_011524341.1:c.4036G=	XP_011522643.1:p.Val1346=
XM_005257058.4:c.3964G=	XP_005257115.2:p.Val1322=
XM_005257059.4:c.3316G=	XP_005257116.2:p.Val1106=
NM_000088.4:c.4234G= MANE Select	NP_000079.2:p.Val1412=