Canonical Allele Identifier: CA2263913886

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185850G= , CM000679.2:g.50185850G=	GRCh38
NC_000017.10:g.48263211G= , CM000679.1:g.48263211G=	GRCh37
NC_000017.9:g.45618210G=	NCBI36
NG_007400.1:g.20790C= , LRG_1:g.20790C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4176C= MANE Select	ENSP00000225964.6:p.Gly1392=
ENST00000225964.9:c.4176C=	ENSP00000225964.5:p.Gly1392=
ENST00000510710.3:n.1141C=
NM_000088.3:c.4176C= , LRG_1t1:c.4176C=	NP_000079.2:p.Gly1392=
XM_005257058.3:c.3906C=	XP_005257115.2:p.Gly1302=
XM_005257059.3:c.3258C=	XP_005257116.2:p.Gly1086=
XM_011524341.1:c.3978C=	XP_011522643.1:p.Gly1326=
XM_005257058.4:c.3906C=	XP_005257115.2:p.Gly1302=
XM_005257059.4:c.3258C=	XP_005257116.2:p.Gly1086=
NM_000088.4:c.4176C= MANE Select	NP_000079.2:p.Gly1392=