Canonical Allele Identifier: CA2263918381

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194770G= , CM000679.2:g.50194770G=	GRCh38
NC_000017.10:g.48272131G= , CM000679.1:g.48272131G=	GRCh37
NC_000017.9:g.45627130G=	NCBI36
NG_007400.1:g.11870C= , LRG_1:g.11870C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1412C= MANE Select	ENSP00000225964.6:p.Ala471=
ENST00000225964.9:c.1412C=	ENSP00000225964.5:p.Ala471=
ENST00000471344.1:n.356C=
NM_000088.3:c.1412C= , LRG_1t1:c.1412C=	NP_000079.2:p.Ala471=
XM_005257058.3:c.1412C=	XP_005257115.2:p.Ala471=
XM_005257059.3:c.957+1544C=	XP_005257116.2:n.957+1544C=
XM_011524341.1:c.1214C=	XP_011522643.1:p.Ala405=
XM_005257058.4:c.1412C=	XP_005257115.2:p.Ala471=
XM_005257059.4:c.957+1544C=	XP_005257116.2:n.957+1544C=
NM_000088.4:c.1412C= MANE Select	NP_000079.2:p.Ala471=