Canonical Allele Identifier: CA291542875

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186766C>T , CM000679.2:g.50186766C>T	GRCh38
NC_000017.10:g.48264127C>T , CM000679.1:g.48264127C>T	GRCh37
NC_000017.9:g.45619126C>T	NCBI36
NG_007400.1:g.19874G>A , LRG_1:g.19874G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3688G>A MANE Select	NP_000079.2:p.Glu1230Lys
ENST00000225964.10:c.3688G>A MANE Select	ENSP00000225964.6:p.Glu1230Lys
NM_000088.3:c.3688G>A , LRG_1t1:c.3688G>A	NP_000079.2:p.Glu1230Lys
ENST00000225964.9:c.3688G>A	ENSP00000225964.5:p.Glu1230Lys
ENST00000510710.3:n.357G>A
XM_005257058.3:c.3418G>A	XP_005257115.2:p.Glu1140Lys
XM_005257058.4:c.3418G>A	XP_005257115.2:p.Glu1140Lys
XM_005257059.3:c.2770G>A	XP_005257116.2:p.Glu924Lys
XM_005257059.4:c.2770G>A	XP_005257116.2:p.Glu924Lys
XM_011524341.1:c.3490G>A	XP_011522643.1:p.Glu1164Lys