Canonical Allele Identifier: CA2263918367

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194744G= , CM000679.2:g.50194744G=	GRCh38
NC_000017.10:g.48272105G= , CM000679.1:g.48272105G=	GRCh37
NC_000017.9:g.45627104G=	NCBI36
NG_007400.1:g.11896C= , LRG_1:g.11896C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1438C= MANE Select	ENSP00000225964.6:p.Leu480=
ENST00000225964.9:c.1438C=	ENSP00000225964.5:p.Leu480=
ENST00000471344.1:n.382C=
NM_000088.3:c.1438C= , LRG_1t1:c.1438C=	NP_000079.2:p.Leu480=
XM_005257058.3:c.1438C=	XP_005257115.2:p.Leu480=
XM_005257059.3:c.957+1570C=	XP_005257116.2:n.957+1570C=
XM_011524341.1:c.1240C=	XP_011522643.1:p.Leu414=
XM_005257058.4:c.1438C=	XP_005257115.2:p.Leu480=
XM_005257059.4:c.957+1570C=	XP_005257116.2:n.957+1570C=
NM_000088.4:c.1438C= MANE Select	NP_000079.2:p.Leu480=