Canonical Allele Identifier: CA400211933

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50191859C>T , CM000679.2:g.50191859C>T	GRCh38
NC_000017.10:g.48269220C>T , CM000679.1:g.48269220C>T	GRCh37
NC_000017.9:g.45624219C>T	NCBI36
NG_007400.1:g.14781G>A , LRG_1:g.14781G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.2056G>A MANE Select	NP_000079.2:p.Gly686Ser
ENST00000225964.10:c.2056G>A MANE Select	ENSP00000225964.6:p.Gly686Ser
NM_000088.3:c.2056G>A , LRG_1t1:c.2056G>A	NP_000079.2:p.Gly686Ser
ENST00000225964.9:c.2056G>A	ENSP00000225964.5:p.Gly686Ser
ENST00000476387.1:n.405G>A
XM_005257058.3:c.2056G>A	XP_005257115.2:p.Gly686Ser
XM_005257058.4:c.2056G>A	XP_005257115.2:p.Gly686Ser
XM_005257059.3:c.1138G>A	XP_005257116.2:p.Gly380Ser
XM_005257059.4:c.1138G>A	XP_005257116.2:p.Gly380Ser
XM_011524341.1:c.1858G>A	XP_011522643.1:p.Gly620Ser