Canonical Allele Identifier: CA2263918361

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194736T= , CM000679.2:g.50194736T=	GRCh38
NC_000017.10:g.48272097T= , CM000679.1:g.48272097T=	GRCh37
NC_000017.9:g.45627096T=	NCBI36
NG_007400.1:g.11904A= , LRG_1:g.11904A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1446A= MANE Select	ENSP00000225964.6:p.Gly482=
ENST00000225964.9:c.1446A=	ENSP00000225964.5:p.Gly482=
ENST00000471344.1:n.390A=
NM_000088.3:c.1446A= , LRG_1t1:c.1446A=	NP_000079.2:p.Gly482=
XM_005257058.3:c.1446A=	XP_005257115.2:p.Gly482=
XM_005257059.3:c.957+1578A=	XP_005257116.2:n.957+1578A=
XM_011524341.1:c.1248A=	XP_011522643.1:p.Gly416=
XM_005257058.4:c.1446A=	XP_005257115.2:p.Gly482=
XM_005257059.4:c.957+1578A=	XP_005257116.2:n.957+1578A=
NM_000088.4:c.1446A= MANE Select	NP_000079.2:p.Gly482=