Canonical Allele Identifier: CA2263913897

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185865G= , CM000679.2:g.50185865G=	GRCh38
NC_000017.10:g.48263226G= , CM000679.1:g.48263226G=	GRCh37
NC_000017.9:g.45618225G=	NCBI36
NG_007400.1:g.20775C= , LRG_1:g.20775C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4161C= MANE Select	ENSP00000225964.6:p.Ala1387=
ENST00000225964.9:c.4161C=	ENSP00000225964.5:p.Ala1387=
ENST00000510710.3:n.1126C=
NM_000088.3:c.4161C= , LRG_1t1:c.4161C=	NP_000079.2:p.Ala1387=
XM_005257058.3:c.3891C=	XP_005257115.2:p.Ala1297=
XM_005257059.3:c.3243C=	XP_005257116.2:p.Ala1081=
XM_011524341.1:c.3963C=	XP_011522643.1:p.Ala1321=
XM_005257058.4:c.3891C=	XP_005257115.2:p.Ala1297=
XM_005257059.4:c.3243C=	XP_005257116.2:p.Ala1081=
NM_000088.4:c.4161C= MANE Select	NP_000079.2:p.Ala1387=