Canonical Allele Identifier: CA2263913725

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185584G= , CM000679.2:g.50185584G=	GRCh38
NC_000017.10:g.48262945G= , CM000679.1:g.48262945G=	GRCh37
NC_000017.9:g.45617944G=	NCBI36
NG_007400.1:g.21056C= , LRG_1:g.21056C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4313C= MANE Select	ENSP00000225964.6:p.Pro1438=
ENST00000225964.9:c.4313C=	ENSP00000225964.5:p.Pro1438=
NM_000088.3:c.4313C= , LRG_1t1:c.4313C=	NP_000079.2:p.Pro1438=
XM_005257058.3:c.4043C=	XP_005257115.2:p.Pro1348=
XM_005257059.3:c.3395C=	XP_005257116.2:p.Pro1132=
XM_011524341.1:c.4115C=	XP_011522643.1:p.Pro1372=
XM_005257058.4:c.4043C=	XP_005257115.2:p.Pro1348=
XM_005257059.4:c.3395C=	XP_005257116.2:p.Pro1132=
NM_000088.4:c.4313C= MANE Select	NP_000079.2:p.Pro1438=