Canonical Allele Identifier: CA2263913876

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185837C= , CM000679.2:g.50185837C=	GRCh38
NC_000017.10:g.48263198C= , CM000679.1:g.48263198C=	GRCh37
NC_000017.9:g.45618197C=	NCBI36
NG_007400.1:g.20803G= , LRG_1:g.20803G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4189G= MANE Select	ENSP00000225964.6:p.Glu1397=
ENST00000225964.9:c.4189G=	ENSP00000225964.5:p.Glu1397=
NM_000088.3:c.4189G= , LRG_1t1:c.4189G=	NP_000079.2:p.Glu1397=
XM_005257058.3:c.3919G=	XP_005257115.2:p.Glu1307=
XM_005257059.3:c.3271G=	XP_005257116.2:p.Glu1091=
XM_011524341.1:c.3991G=	XP_011522643.1:p.Glu1331=
XM_005257058.4:c.3919G=	XP_005257115.2:p.Glu1307=
XM_005257059.4:c.3271G=	XP_005257116.2:p.Glu1091=
NM_000088.4:c.4189G= MANE Select	NP_000079.2:p.Glu1397=