Canonical Allele Identifier: CA2263920658

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199345G= , CM000679.2:g.50199345G=	GRCh38
NC_000017.10:g.48276706G= , CM000679.1:g.48276706G=	GRCh37
NC_000017.9:g.45631705G=	NCBI36
NG_007400.1:g.7295C= , LRG_1:g.7295C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.370-18C= MANE Select	ENSP00000225964.6:n.370-18C=
ENST00000225964.9:c.370-18C=	ENSP00000225964.5:n.370-18C=
ENST00000474644.1:n.591-18C=
ENST00000507689.1:c.424-18C=	ENSP00000460459.1:n.424-18C=
NM_000088.3:c.370-18C= , LRG_1t1:c.370-18C=	NP_000079.2:n.370-18C=
XM_005257058.3:c.370-18C=	XP_005257115.2:n.370-18C=
XM_005257059.3:c.370-18C=	XP_005257116.2:n.370-18C=
XM_011524341.1:c.370-18C=	XP_011522643.1:n.370-18C=
XM_005257058.4:c.370-18C=	XP_005257115.2:n.370-18C=
XM_005257059.4:c.370-18C=	XP_005257116.2:n.370-18C=
NM_000088.4:c.370-18C= MANE Select	NP_000079.2:n.370-18C=