Canonical Allele Identifier: CA3223295390

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190360A= , CM000679.2:g.50190360A=	GRCh38
NC_000017.10:g.48267721A= , CM000679.1:g.48267721A=	GRCh37
NC_000017.9:g.45622720A=	NCBI36
NG_007400.1:g.16280T= , LRG_1:g.16280T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2418T= MANE Select	NP_000079.2:p.Gly806=
ENST00000225964.10:c.2418T= MANE Select	ENSP00000225964.6:p.Gly806=
NM_000088.3:c.2418T= , LRG_1t1:c.2418T=	NP_000079.2:p.Gly806=
ENST00000225964.9:c.2418T=	ENSP00000225964.5:p.Gly806=
ENST00000494334.1:n.345T=
XM_005257058.3:c.2418T=	XP_005257115.2:p.Gly806=
XM_005257058.4:c.2418T=	XP_005257115.2:p.Gly806=
XM_005257059.3:c.1500T=	XP_005257116.2:p.Gly500=
XM_005257059.4:c.1500T=	XP_005257116.2:p.Gly500=
XM_011524341.1:c.2220T=	XP_011522643.1:p.Gly740=