Canonical Allele Identifier: CA2263913889

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185854T= , CM000679.2:g.50185854T=	GRCh38
NC_000017.10:g.48263215T= , CM000679.1:g.48263215T=	GRCh37
NC_000017.9:g.45618214T=	NCBI36
NG_007400.1:g.20786A= , LRG_1:g.20786A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4172A= MANE Select	ENSP00000225964.6:p.Gln1391=
ENST00000225964.9:c.4172A=	ENSP00000225964.5:p.Gln1391=
ENST00000510710.3:n.1137A=
NM_000088.3:c.4172A= , LRG_1t1:c.4172A=	NP_000079.2:p.Gln1391=
XM_005257058.3:c.3902A=	XP_005257115.2:p.Gln1301=
XM_005257059.3:c.3254A=	XP_005257116.2:p.Gln1085=
XM_011524341.1:c.3974A=	XP_011522643.1:p.Gln1325=
XM_005257058.4:c.3902A=	XP_005257115.2:p.Gln1301=
XM_005257059.4:c.3254A=	XP_005257116.2:p.Gln1085=
NM_000088.4:c.4172A= MANE Select	NP_000079.2:p.Gln1391=