Canonical Allele Identifier: CA2263913918

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185909T= , CM000679.2:g.50185909T=	GRCh38
NC_000017.10:g.48263270T= , CM000679.1:g.48263270T=	GRCh37
NC_000017.9:g.45618269T=	NCBI36
NG_007400.1:g.20731A= , LRG_1:g.20731A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4117A= MANE Select	ENSP00000225964.6:p.Ser1373=
ENST00000225964.9:c.4117A=	ENSP00000225964.5:p.Ser1373=
ENST00000510710.3:n.1082A=
NM_000088.3:c.4117A= , LRG_1t1:c.4117A=	NP_000079.2:p.Ser1373=
XM_005257058.3:c.3847A=	XP_005257115.2:p.Ser1283=
XM_005257059.3:c.3199A=	XP_005257116.2:p.Ser1067=
XM_011524341.1:c.3919A=	XP_011522643.1:p.Ser1307=
XM_005257058.4:c.3847A=	XP_005257115.2:p.Ser1283=
XM_005257059.4:c.3199A=	XP_005257116.2:p.Ser1067=
NM_000088.4:c.4117A= MANE Select	NP_000079.2:p.Ser1373=