Canonical Allele Identifier: CA127136

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186903C>A , CM000679.2:g.50186903C>A	GRCh38
NC_000017.10:g.48264264C>A , CM000679.1:g.48264264C>A	GRCh37
NC_000017.9:g.45619263C>A	NCBI36
NG_007400.1:g.19737G>T , LRG_1:g.19737G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3551G>T MANE Select	ENSP00000225964.6:p.Gly1184Val
ENST00000225964.9:c.3551G>T	ENSP00000225964.5:p.Gly1184Val
ENST00000510710.3:n.220G>T
NM_000088.3:c.3551G>T , LRG_1t1:c.3551G>T	NP_000079.2:p.Gly1184Val
XM_005257058.3:c.3281G>T	XP_005257115.2:p.Gly1094Val
XM_005257059.3:c.2633G>T	XP_005257116.2:p.Gly878Val
XM_011524341.1:c.3353G>T	XP_011522643.1:p.Gly1118Val
XM_005257058.4:c.3281G>T	XP_005257115.2:p.Gly1094Val
XM_005257059.4:c.2633G>T	XP_005257116.2:p.Gly878Val
NM_000088.4:c.3551G>T MANE Select	NP_000079.2:p.Gly1184Val