Canonical Allele Identifier: CA2263917298

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192528C= , CM000679.2:g.50192528C=	GRCh38
NC_000017.10:g.48269889C= , CM000679.1:g.48269889C=	GRCh37
NC_000017.9:g.45624888C=	NCBI36
NG_007400.1:g.14112G= , LRG_1:g.14112G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.1930G= MANE Select	ENSP00000225964.6:p.Gly644=
ENST00000225964.9:c.1930G=	ENSP00000225964.5:p.Gly644=
ENST00000476387.1:n.279G=
NM_000088.3:c.1930G= , LRG_1t1:c.1930G=	NP_000079.2:p.Gly644=
XM_005257058.3:c.1930G=	XP_005257115.2:p.Gly644=
XM_005257059.3:c.1012G=	XP_005257116.2:p.Gly338=
XM_011524341.1:c.1732G=	XP_011522643.1:p.Gly578=
XM_005257058.4:c.1930G=	XP_005257115.2:p.Gly644=
XM_005257059.4:c.1012G=	XP_005257116.2:p.Gly338=
NM_000088.4:c.1930G= MANE Select	NP_000079.2:p.Gly644=