Canonical Allele Identifier: CA2263920647

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199324G= , CM000679.2:g.50199324G=	GRCh38
NC_000017.10:g.48276685G= , CM000679.1:g.48276685G=	GRCh37
NC_000017.9:g.45631684G=	NCBI36
NG_007400.1:g.7316C= , LRG_1:g.7316C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.373C= MANE Select	ENSP00000225964.6:p.Pro125=
ENST00000225964.9:c.373C=	ENSP00000225964.5:p.Pro125=
ENST00000474644.1:n.594C=
ENST00000507689.1:c.427C=	ENSP00000460459.1:p.Pro143=
NM_000088.3:c.373C= , LRG_1t1:c.373C=	NP_000079.2:p.Pro125=
XM_005257058.3:c.373C=	XP_005257115.2:p.Pro125=
XM_005257059.3:c.373C=	XP_005257116.2:p.Pro125=
XM_011524341.1:c.373C=	XP_011522643.1:p.Pro125=
XM_005257058.4:c.373C=	XP_005257115.2:p.Pro125=
XM_005257059.4:c.373C=	XP_005257116.2:p.Pro125=
NM_000088.4:c.373C= MANE Select	NP_000079.2:p.Pro125=