Canonical Allele Identifier: CA2263917209

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192987T= , CM000679.2:g.50192987T=	GRCh38
NC_000017.10:g.48270348T= , CM000679.1:g.48270348T=	GRCh37
NC_000017.9:g.45625347T=	NCBI36
NG_007400.1:g.13653A= , LRG_1:g.13653A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+7A= MANE Select	ENSP00000225964.6:n.1821+7A=
ENST00000225964.9:c.1821+7A=	ENSP00000225964.5:n.1821+7A=
ENST00000476387.1:n.170+7A=
NM_000088.3:c.1821+7A= , LRG_1t1:c.1821+7A=	NP_000079.2:n.1821+7A=
XM_005257058.3:c.1821+7A=	XP_005257115.2:n.1821+7A=
XM_005257059.3:c.958-294A=	XP_005257116.2:n.958-294A=
XM_011524341.1:c.1623+7A=	XP_011522643.1:n.1623+7A=
XM_005257058.4:c.1821+7A=	XP_005257115.2:n.1821+7A=
XM_005257059.4:c.958-294A=	XP_005257116.2:n.958-294A=
NM_000088.4:c.1821+7A= MANE Select	NP_000079.2:n.1821+7A=