Canonical Allele Identifier: CA2263917203

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192983G= , CM000679.2:g.50192983G=	GRCh38
NC_000017.10:g.48270344G= , CM000679.1:g.48270344G=	GRCh37
NC_000017.9:g.45625343G=	NCBI36
NG_007400.1:g.13657C= , LRG_1:g.13657C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1821+11C= MANE Select	ENSP00000225964.6:n.1821+11C=
ENST00000225964.9:c.1821+11C=	ENSP00000225964.5:n.1821+11C=
ENST00000476387.1:n.170+11C=
NM_000088.3:c.1821+11C= , LRG_1t1:c.1821+11C=	NP_000079.2:n.1821+11C=
XM_005257058.3:c.1821+11C=	XP_005257115.2:n.1821+11C=
XM_005257059.3:c.958-290C=	XP_005257116.2:n.958-290C=
XM_011524341.1:c.1623+11C=	XP_011522643.1:n.1623+11C=
XM_005257058.4:c.1821+11C=	XP_005257115.2:n.1821+11C=
XM_005257059.4:c.958-290C=	XP_005257116.2:n.958-290C=
NM_000088.4:c.1821+11C= MANE Select	NP_000079.2:n.1821+11C=