Canonical Allele Identifier: CA2263918949

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195870A= , CM000679.2:g.50195870A=	GRCh38
NC_000017.10:g.48273231A= , CM000679.1:g.48273231A=	GRCh37
NC_000017.9:g.45628230A=	NCBI36
NG_007400.1:g.10770T= , LRG_1:g.10770T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1056+53T= MANE Select	ENSP00000225964.6:n.1056+53T=
ENST00000225964.9:c.1056+53T=	ENSP00000225964.5:n.1056+53T=
NM_000088.3:c.1056+53T= , LRG_1t1:c.1056+53T=	NP_000079.2:n.1056+53T=
XM_005257058.3:c.1056+53T=	XP_005257115.2:n.1056+53T=
XM_005257059.3:c.957+444T=	XP_005257116.2:n.957+444T=
XM_011524341.1:c.958-392T=	XP_011522643.1:n.958-392T=
XM_005257058.4:c.1056+53T=	XP_005257115.2:n.1056+53T=
XM_005257059.4:c.957+444T=	XP_005257116.2:n.957+444T=
NM_000088.4:c.1056+53T= MANE Select	NP_000079.2:n.1056+53T=