Canonical Allele Identifier: CA2263914947

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188048T= , CM000679.2:g.50188048T=	GRCh38
NC_000017.10:g.48265409T= , CM000679.1:g.48265409T=	GRCh37
NC_000017.9:g.45620408T=	NCBI36
NG_007400.1:g.18592A= , LRG_1:g.18592A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3261+48A= MANE Select	ENSP00000225964.6:n.3261+48A=
ENST00000225964.9:c.3261+48A=	ENSP00000225964.5:n.3261+48A=
ENST00000486572.1:n.459+48A=
ENST00000511732.1:n.633A=
NM_000088.3:c.3261+48A= , LRG_1t1:c.3261+48A=	NP_000079.2:n.3261+48A=
XM_005257058.3:c.2991+48A=	XP_005257115.2:n.2991+48A=
XM_005257059.3:c.2343+48A=	XP_005257116.2:n.2343+48A=
XM_011524341.1:c.3063+48A=	XP_011522643.1:n.3063+48A=
XM_005257058.4:c.2991+48A=	XP_005257115.2:n.2991+48A=
XM_005257059.4:c.2343+48A=	XP_005257116.2:n.2343+48A=
NM_000088.4:c.3261+48A= MANE Select	NP_000079.2:n.3261+48A=