Canonical Allele Identifier: CA2263916656

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191457G= , CM000679.2:g.50191457G=	GRCh38
NC_000017.10:g.48268818G= , CM000679.1:g.48268818G=	GRCh37
NC_000017.9:g.45623817G=	NCBI36
NG_007400.1:g.15183C= , LRG_1:g.15183C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2161C= MANE Select	NP_000079.2:p.Gln721=
ENST00000225964.10:c.2161C= MANE Select	ENSP00000225964.6:p.Gln721=
NM_000088.3:c.2161C= , LRG_1t1:c.2161C=	NP_000079.2:p.Gln721=
ENST00000225964.9:c.2161C=	ENSP00000225964.5:p.Gln721=
ENST00000476387.1:n.510C=
XM_005257058.3:c.2161C=	XP_005257115.2:p.Gln721=
XM_005257058.4:c.2161C=	XP_005257115.2:p.Gln721=
XM_005257059.3:c.1243C=	XP_005257116.2:p.Gln415=
XM_005257059.4:c.1243C=	XP_005257116.2:p.Gln415=
XM_011524341.1:c.1963C=	XP_011522643.1:p.Gln655=