Canonical Allele Identifier: CA2263917449

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192644A= , CM000679.2:g.50192644A=	GRCh38
NC_000017.10:g.48270005A= , CM000679.1:g.48270005A=	GRCh37
NC_000017.9:g.45625004A=	NCBI36
NG_007400.1:g.13996T= , LRG_1:g.13996T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1925T= MANE Select	ENSP00000225964.6:p.Phe642=
ENST00000225964.9:c.1925T=	ENSP00000225964.5:p.Phe642=
ENST00000476387.1:n.274T=
NM_000088.3:c.1925T= , LRG_1t1:c.1925T=	NP_000079.2:p.Phe642=
XM_005257058.3:c.1925T=	XP_005257115.2:p.Phe642=
XM_005257059.3:c.1007T=	XP_005257116.2:p.Phe336=
XM_011524341.1:c.1727T=	XP_011522643.1:p.Phe576=
XM_005257058.4:c.1925T=	XP_005257115.2:p.Phe642=
XM_005257059.4:c.1007T=	XP_005257116.2:p.Phe336=
NM_000088.4:c.1925T= MANE Select	NP_000079.2:p.Phe642=