Canonical Allele Identifier: CA8644910

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191442G>T , CM000679.2:g.50191442G>T	GRCh38
NC_000017.10:g.48268803G>T , CM000679.1:g.48268803G>T	GRCh37
NC_000017.9:g.45623802G>T	NCBI36
NG_007400.1:g.15198C>A , LRG_1:g.15198C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2176C>A MANE Select	NP_000079.2:p.Leu726Ile
ENST00000225964.10:c.2176C>A MANE Select	ENSP00000225964.6:p.Leu726Ile
NM_000088.3:c.2176C>A , LRG_1t1:c.2176C>A	NP_000079.2:p.Leu726Ile
ENST00000225964.9:c.2176C>A	ENSP00000225964.5:p.Leu726Ile
ENST00000476387.1:n.525C>A
XM_005257058.3:c.2176C>A	XP_005257115.2:p.Leu726Ile
XM_005257058.4:c.2176C>A	XP_005257115.2:p.Leu726Ile
XM_005257059.3:c.1258C>A	XP_005257116.2:p.Leu420Ile
XM_005257059.4:c.1258C>A	XP_005257116.2:p.Leu420Ile
XM_011524341.1:c.1978C>A	XP_011522643.1:p.Leu660Ile