Canonical Allele Identifier: CA2263916177

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190381C= , CM000679.2:g.50190381C=	GRCh38
NC_000017.10:g.48267742C= , CM000679.1:g.48267742C=	GRCh37
NC_000017.9:g.45622741C=	NCBI36
NG_007400.1:g.16259G= , LRG_1:g.16259G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2398-1G= MANE Select	NP_000079.2:n.2398-1G=
ENST00000225964.10:c.2398-1G= MANE Select	ENSP00000225964.6:n.2398-1G=
NM_000088.3:c.2398-1G= , LRG_1t1:c.2398-1G=	NP_000079.2:n.2398-1G=
ENST00000225964.9:c.2398-1G=	ENSP00000225964.5:n.2398-1G=
ENST00000494334.1:n.324G=
XM_005257058.3:c.2398-1G=	XP_005257115.2:n.2398-1G=
XM_005257058.4:c.2398-1G=	XP_005257115.2:n.2398-1G=
XM_005257059.3:c.1480-1G=	XP_005257116.2:n.1480-1G=
XM_005257059.4:c.1480-1G=	XP_005257116.2:n.1480-1G=
XM_011524341.1:c.2200-1G=	XP_011522643.1:n.2200-1G=