Canonical Allele Identifier: CA2263917929

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193920A= , CM000679.2:g.50193920A=	GRCh38
NC_000017.10:g.48271281A= , CM000679.1:g.48271281A=	GRCh37
NC_000017.9:g.45626280A=	NCBI36
NG_007400.1:g.12720T= , LRG_1:g.12720T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+23T= MANE Select	ENSP00000225964.6:n.1767+23T=
ENST00000225964.9:c.1767+23T=	ENSP00000225964.5:n.1767+23T=
ENST00000463440.1:n.180T=
ENST00000471344.1:n.822T=
ENST00000476387.1:n.116+23T=
NM_000088.3:c.1767+23T= , LRG_1t1:c.1767+23T=	NP_000079.2:n.1767+23T=
XM_005257058.3:c.1767+23T=	XP_005257115.2:n.1767+23T=
XM_005257059.3:c.958-1227T=	XP_005257116.2:n.958-1227T=
XM_011524341.1:c.1569+23T=	XP_011522643.1:n.1569+23T=
XM_005257058.4:c.1767+23T=	XP_005257115.2:n.1767+23T=
XM_005257059.4:c.958-1227T=	XP_005257116.2:n.958-1227T=
NM_000088.4:c.1767+23T= MANE Select	NP_000079.2:n.1767+23T=