Canonical Allele Identifier: CA2263913912

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185892G= , CM000679.2:g.50185892G=	GRCh38
NC_000017.10:g.48263253G= , CM000679.1:g.48263253G=	GRCh37
NC_000017.9:g.45618252G=	NCBI36
NG_007400.1:g.20748C= , LRG_1:g.20748C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4134C= MANE Select	ENSP00000225964.6:p.Asp1378=
ENST00000225964.9:c.4134C=	ENSP00000225964.5:p.Asp1378=
ENST00000510710.3:n.1099C=
NM_000088.3:c.4134C= , LRG_1t1:c.4134C=	NP_000079.2:p.Asp1378=
XM_005257058.3:c.3864C=	XP_005257115.2:p.Asp1288=
XM_005257059.3:c.3216C=	XP_005257116.2:p.Asp1072=
XM_011524341.1:c.3936C=	XP_011522643.1:p.Asp1312=
XM_005257058.4:c.3864C=	XP_005257115.2:p.Asp1288=
XM_005257059.4:c.3216C=	XP_005257116.2:p.Asp1072=
NM_000088.4:c.4134C= MANE Select	NP_000079.2:p.Asp1378=