Canonical Allele Identifier: CA400218794

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195284C>T , CM000679.2:g.50195284C>T	GRCh38
NC_000017.10:g.48272645C>T , CM000679.1:g.48272645C>T	GRCh37
NC_000017.9:g.45627644C>T	NCBI36
NG_007400.1:g.11356G>A , LRG_1:g.11356G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.1247G>A MANE Select	NP_000079.2:p.Gly416Asp
ENST00000225964.10:c.1247G>A MANE Select	ENSP00000225964.6:p.Gly416Asp
NM_000088.3:c.1247G>A , LRG_1t1:c.1247G>A	NP_000079.2:p.Gly416Asp
ENST00000225964.9:c.1247G>A	ENSP00000225964.5:p.Gly416Asp
ENST00000471344.1:n.191G>A
XM_005257058.3:c.1247G>A	XP_005257115.2:p.Gly416Asp
XM_005257058.4:c.1247G>A	XP_005257115.2:p.Gly416Asp
XM_005257059.3:c.957+1030G>A	XP_005257116.2:n.957+1030G>A
XM_005257059.4:c.957+1030G>A	XP_005257116.2:n.957+1030G>A
XM_011524341.1:c.1049G>A	XP_011522643.1:p.Gly350Asp