Canonical Allele Identifier: CA291544045

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191814C>T , CM000679.2:g.50191814C>T	GRCh38
NC_000017.10:g.48269175C>T , CM000679.1:g.48269175C>T	GRCh37
NC_000017.9:g.45624174C>T	NCBI36
NG_007400.1:g.14826G>A , LRG_1:g.14826G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2101G>A MANE Select	NP_000079.2:p.Gly701Ser
ENST00000225964.10:c.2101G>A MANE Select	ENSP00000225964.6:p.Gly701Ser
NM_000088.3:c.2101G>A , LRG_1t1:c.2101G>A	NP_000079.2:p.Gly701Ser
ENST00000225964.9:c.2101G>A	ENSP00000225964.5:p.Gly701Ser
ENST00000476387.1:n.450G>A
XM_005257058.3:c.2101G>A	XP_005257115.2:p.Gly701Ser
XM_005257058.4:c.2101G>A	XP_005257115.2:p.Gly701Ser
XM_005257059.3:c.1183G>A	XP_005257116.2:p.Gly395Ser
XM_005257059.4:c.1183G>A	XP_005257116.2:p.Gly395Ser
XM_011524341.1:c.1903G>A	XP_011522643.1:p.Gly635Ser