Canonical Allele Identifier: CA2263917212

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192988A= , CM000679.2:g.50192988A=	GRCh38
NC_000017.10:g.48270349A= , CM000679.1:g.48270349A=	GRCh37
NC_000017.9:g.45625348A=	NCBI36
NG_007400.1:g.13652T= , LRG_1:g.13652T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+6T= MANE Select	ENSP00000225964.6:n.1821+6T=
ENST00000225964.9:c.1821+6T=	ENSP00000225964.5:n.1821+6T=
ENST00000476387.1:n.170+6T=
NM_000088.3:c.1821+6T= , LRG_1t1:c.1821+6T=	NP_000079.2:n.1821+6T=
XM_005257058.3:c.1821+6T=	XP_005257115.2:n.1821+6T=
XM_005257059.3:c.958-295T=	XP_005257116.2:n.958-295T=
XM_011524341.1:c.1623+6T=	XP_011522643.1:n.1623+6T=
XM_005257058.4:c.1821+6T=	XP_005257115.2:n.1821+6T=
XM_005257059.4:c.958-295T=	XP_005257116.2:n.958-295T=
NM_000088.4:c.1821+6T= MANE Select	NP_000079.2:n.1821+6T=