Canonical Allele Identifier: CA2263917518

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192685A= , CM000679.2:g.50192685A=	GRCh38
NC_000017.10:g.48270046A= , CM000679.1:g.48270046A=	GRCh37
NC_000017.9:g.45625045A=	NCBI36
NG_007400.1:g.13955T= , LRG_1:g.13955T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1884T= MANE Select	ENSP00000225964.6:p.Ala628=
ENST00000225964.9:c.1884T=	ENSP00000225964.5:p.Ala628=
ENST00000476387.1:n.233T=
NM_000088.3:c.1884T= , LRG_1t1:c.1884T=	NP_000079.2:p.Ala628=
XM_005257058.3:c.1884T=	XP_005257115.2:p.Ala628=
XM_005257059.3:c.966T=	XP_005257116.2:p.Ala322=
XM_011524341.1:c.1686T=	XP_011522643.1:p.Ala562=
XM_005257058.4:c.1884T=	XP_005257115.2:p.Ala628=
XM_005257059.4:c.966T=	XP_005257116.2:p.Ala322=
NM_000088.4:c.1884T= MANE Select	NP_000079.2:p.Ala628=