Canonical Allele Identifier: CA291550707

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199556C>T , CM000679.2:g.50199556C>T	GRCh38
NC_000017.10:g.48276917C>T , CM000679.1:g.48276917C>T	GRCh37
NC_000017.9:g.45631916C>T	NCBI36
NG_007400.1:g.7084G>A , LRG_1:g.7084G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.333G>A MANE Select	NP_000079.2:p.Glu111=
ENST00000225964.10:c.333G>A MANE Select	ENSP00000225964.6:p.Glu111=
NM_000088.3:c.333G>A , LRG_1t1:c.333G>A	NP_000079.2:p.Glu111=
ENST00000225964.9:c.333G>A	ENSP00000225964.5:p.Glu111=
ENST00000474644.1:n.452G>A
ENST00000507689.1:c.387G>A	ENSP00000460459.1:p.Glu129=
XM_005257058.3:c.333G>A	XP_005257115.2:p.Glu111=
XM_005257058.4:c.333G>A	XP_005257115.2:p.Glu111=
XM_005257059.3:c.333G>A	XP_005257116.2:p.Glu111=
XM_005257059.4:c.333G>A	XP_005257116.2:p.Glu111=
XM_011524341.1:c.333G>A	XP_011522643.1:p.Glu111=