Canonical Allele Identifier: CA281092

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50187486G>A , CM000679.2:g.50187486G>A	GRCh38
NC_000017.10:g.48264847G>A , CM000679.1:g.48264847G>A	GRCh37
NC_000017.9:g.45619846G>A	NCBI36
NG_007400.1:g.19154C>T , LRG_1:g.19154C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3421C>T MANE Select	NP_000079.2:p.Arg1141Ter
ENST00000225964.10:c.3421C>T MANE Select	ENSP00000225964.6:p.Arg1141Ter
NM_000088.3:c.3421C>T , LRG_1t1:c.3421C>T	NP_000079.2:p.Arg1141Ter
ENST00000225964.9:c.3421C>T	ENSP00000225964.5:p.Arg1141Ter
XM_005257058.3:c.3151C>T	XP_005257115.2:p.Arg1051Ter
XM_005257058.4:c.3151C>T	XP_005257115.2:p.Arg1051Ter
XM_005257059.3:c.2503C>T	XP_005257116.2:p.Arg835Ter
XM_005257059.4:c.2503C>T	XP_005257116.2:p.Arg835Ter
XM_011524341.1:c.3223C>T	XP_011522643.1:p.Arg1075Ter