Canonical Allele Identifier: CA2263917971

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194024A= , CM000679.2:g.50194024A=	GRCh38
NC_000017.10:g.48271385A= , CM000679.1:g.48271385A=	GRCh37
NC_000017.9:g.45626384A=	NCBI36
NG_007400.1:g.12616T= , LRG_1:g.12616T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1686T= MANE Select	ENSP00000225964.6:p.Asp562=
ENST00000225964.9:c.1686T=	ENSP00000225964.5:p.Asp562=
ENST00000463440.1:n.76T=
ENST00000471344.1:n.718T=
ENST00000476387.1:n.35T=
NM_000088.3:c.1686T= , LRG_1t1:c.1686T=	NP_000079.2:p.Asp562=
XM_005257058.3:c.1686T=	XP_005257115.2:p.Asp562=
XM_005257059.3:c.958-1331T=	XP_005257116.2:n.958-1331T=
XM_011524341.1:c.1488T=	XP_011522643.1:p.Asp496=
XM_005257058.4:c.1686T=	XP_005257115.2:p.Asp562=
XM_005257059.4:c.958-1331T=	XP_005257116.2:n.958-1331T=
NM_000088.4:c.1686T= MANE Select	NP_000079.2:p.Asp562=