Canonical Allele Identifier: CA2263913868

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185825C= , CM000679.2:g.50185825C=	GRCh38
NC_000017.10:g.48263186C= , CM000679.1:g.48263186C=	GRCh37
NC_000017.9:g.45618185C=	NCBI36
NG_007400.1:g.20815G= , LRG_1:g.20815G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4201G= MANE Select	ENSP00000225964.6:p.Glu1401=
ENST00000225964.9:c.4201G=	ENSP00000225964.5:p.Glu1401=
NM_000088.3:c.4201G= , LRG_1t1:c.4201G=	NP_000079.2:p.Glu1401=
XM_005257058.3:c.3931G=	XP_005257115.2:p.Glu1311=
XM_005257059.3:c.3283G=	XP_005257116.2:p.Glu1095=
XM_011524341.1:c.4003G=	XP_011522643.1:p.Glu1335=
XM_005257058.4:c.3931G=	XP_005257115.2:p.Glu1311=
XM_005257059.4:c.3283G=	XP_005257116.2:p.Glu1095=
NM_000088.4:c.4201G= MANE Select	NP_000079.2:p.Glu1401=