Canonical Allele Identifier: CA2263913962

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185991A= , CM000679.2:g.50185991A=	GRCh38
NC_000017.10:g.48263352A= , CM000679.1:g.48263352A=	GRCh37
NC_000017.9:g.45618351A=	NCBI36
NG_007400.1:g.20649T= , LRG_1:g.20649T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4035T= MANE Select	NP_000079.2:p.Pro1345=
ENST00000225964.10:c.4035T= MANE Select	ENSP00000225964.6:p.Pro1345=
NM_000088.3:c.4035T= , LRG_1t1:c.4035T=	NP_000079.2:p.Pro1345=
ENST00000225964.9:c.4035T=	ENSP00000225964.5:p.Pro1345=
ENST00000510710.3:n.1000T=
XM_005257058.3:c.3765T=	XP_005257115.2:p.Pro1255=
XM_005257058.4:c.3765T=	XP_005257115.2:p.Pro1255=
XM_005257059.3:c.3117T=	XP_005257116.2:p.Pro1039=
XM_005257059.4:c.3117T=	XP_005257116.2:p.Pro1039=
XM_011524341.1:c.3837T=	XP_011522643.1:p.Pro1279=