Canonical Allele Identifier: CA8644516

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188120G>T , CM000679.2:g.50188120G>T	GRCh38
NC_000017.10:g.48265481G>T , CM000679.1:g.48265481G>T	GRCh37
NC_000017.9:g.45620480G>T	NCBI36
NG_007400.1:g.18520C>A , LRG_1:g.18520C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3237C>A MANE Select	NP_000079.2:p.Gly1079=
ENST00000225964.10:c.3237C>A MANE Select	ENSP00000225964.6:p.Gly1079=
NM_000088.3:c.3237C>A , LRG_1t1:c.3237C>A	NP_000079.2:p.Gly1079=
ENST00000225964.9:c.3237C>A	ENSP00000225964.5:p.Gly1079=
ENST00000486572.1:n.435C>A
ENST00000511732.1:n.561C>A
XM_005257058.3:c.2967C>A	XP_005257115.2:p.Gly989=
XM_005257058.4:c.2967C>A	XP_005257115.2:p.Gly989=
XM_005257059.3:c.2319C>A	XP_005257116.2:p.Gly773=
XM_005257059.4:c.2319C>A	XP_005257116.2:p.Gly773=
XM_011524341.1:c.3039C>A	XP_011522643.1:p.Gly1013=