Canonical Allele Identifier: CA2263918363

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194738C= , CM000679.2:g.50194738C=	GRCh38
NC_000017.10:g.48272099C= , CM000679.1:g.48272099C=	GRCh37
NC_000017.9:g.45627098C=	NCBI36
NG_007400.1:g.11902G= , LRG_1:g.11902G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1444G= MANE Select	ENSP00000225964.6:p.Gly482=
ENST00000225964.9:c.1444G=	ENSP00000225964.5:p.Gly482=
ENST00000471344.1:n.388G=
NM_000088.3:c.1444G= , LRG_1t1:c.1444G=	NP_000079.2:p.Gly482=
XM_005257058.3:c.1444G=	XP_005257115.2:p.Gly482=
XM_005257059.3:c.957+1576G=	XP_005257116.2:n.957+1576G=
XM_011524341.1:c.1246G=	XP_011522643.1:p.Gly416=
XM_005257058.4:c.1444G=	XP_005257115.2:p.Gly482=
XM_005257059.4:c.957+1576G=	XP_005257116.2:n.957+1576G=
NM_000088.4:c.1444G= MANE Select	NP_000079.2:p.Gly482=