Canonical Allele Identifier: CA2263919040

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196042A= , CM000679.2:g.50196042A=	GRCh38
NC_000017.10:g.48273403A= , CM000679.1:g.48273403A=	GRCh37
NC_000017.9:g.45628402A=	NCBI36
NG_007400.1:g.10598T= , LRG_1:g.10598T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1003-66T= MANE Select	ENSP00000225964.6:n.1003-66T=
ENST00000225964.9:c.1003-66T=	ENSP00000225964.5:n.1003-66T=
NM_000088.3:c.1003-66T= , LRG_1t1:c.1003-66T=	NP_000079.2:n.1003-66T=
XM_005257058.3:c.1003-66T=	XP_005257115.2:n.1003-66T=
XM_005257059.3:c.957+272T=	XP_005257116.2:n.957+272T=
XM_011524341.1:c.957+272T=	XP_011522643.1:n.957+272T=
XM_005257058.4:c.1003-66T=	XP_005257115.2:n.1003-66T=
XM_005257059.4:c.957+272T=	XP_005257116.2:n.957+272T=
NM_000088.4:c.1003-66T= MANE Select	NP_000079.2:n.1003-66T=