Canonical Allele Identifier: CA2263917145

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192945T= , CM000679.2:g.50192945T=	GRCh38
NC_000017.10:g.48270306T= , CM000679.1:g.48270306T=	GRCh37
NC_000017.9:g.45625305T=	NCBI36
NG_007400.1:g.13695A= , LRG_1:g.13695A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+49A= MANE Select	ENSP00000225964.6:n.1821+49A=
ENST00000225964.9:c.1821+49A=	ENSP00000225964.5:n.1821+49A=
ENST00000476387.1:n.170+49A=
NM_000088.3:c.1821+49A= , LRG_1t1:c.1821+49A=	NP_000079.2:n.1821+49A=
XM_005257058.3:c.1821+49A=	XP_005257115.2:n.1821+49A=
XM_005257059.3:c.958-252A=	XP_005257116.2:n.958-252A=
XM_011524341.1:c.1623+49A=	XP_011522643.1:n.1623+49A=
XM_005257058.4:c.1821+49A=	XP_005257115.2:n.1821+49A=
XM_005257059.4:c.958-252A=	XP_005257116.2:n.958-252A=
NM_000088.4:c.1821+49A= MANE Select	NP_000079.2:n.1821+49A=