Canonical Allele Identifier: CA2263913915

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185904C= , CM000679.2:g.50185904C=	GRCh38
NC_000017.10:g.48263265C= , CM000679.1:g.48263265C=	GRCh37
NC_000017.9:g.45618264C=	NCBI36
NG_007400.1:g.20736G= , LRG_1:g.20736G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4122G= MANE Select	ENSP00000225964.6:p.Val1374=
ENST00000225964.9:c.4122G=	ENSP00000225964.5:p.Val1374=
ENST00000510710.3:n.1087G=
NM_000088.3:c.4122G= , LRG_1t1:c.4122G=	NP_000079.2:p.Val1374=
XM_005257058.3:c.3852G=	XP_005257115.2:p.Val1284=
XM_005257059.3:c.3204G=	XP_005257116.2:p.Val1068=
XM_011524341.1:c.3924G=	XP_011522643.1:p.Val1308=
XM_005257058.4:c.3852G=	XP_005257115.2:p.Val1284=
XM_005257059.4:c.3204G=	XP_005257116.2:p.Val1068=
NM_000088.4:c.4122G= MANE Select	NP_000079.2:p.Val1374=