Canonical Allele Identifier: CA2263918911

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195796C= , CM000679.2:g.50195796C=	GRCh38
NC_000017.10:g.48273157C= , CM000679.1:g.48273157C=	GRCh37
NC_000017.9:g.45628156C=	NCBI36
NG_007400.1:g.10844G= , LRG_1:g.10844G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1056+127G= MANE Select	ENSP00000225964.6:n.1056+127G=
ENST00000225964.9:c.1056+127G=	ENSP00000225964.5:n.1056+127G=
NM_000088.3:c.1056+127G= , LRG_1t1:c.1056+127G=	NP_000079.2:n.1056+127G=
XM_005257058.3:c.1056+127G=	XP_005257115.2:n.1056+127G=
XM_005257059.3:c.957+518G=	XP_005257116.2:n.957+518G=
XM_011524341.1:c.958-318G=	XP_011522643.1:n.958-318G=
XM_005257058.4:c.1056+127G=	XP_005257115.2:n.1056+127G=
XM_005257059.4:c.957+518G=	XP_005257116.2:n.957+518G=
NM_000088.4:c.1056+127G= MANE Select	NP_000079.2:n.1056+127G=