Canonical Allele Identifier: CA2263917783

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193624G= , CM000679.2:g.50193624G=	GRCh38
NC_000017.10:g.48270985G= , CM000679.1:g.48270985G=	GRCh37
NC_000017.9:g.45625984G=	NCBI36
NG_007400.1:g.13016C= , LRG_1:g.13016C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+319C= MANE Select	ENSP00000225964.6:n.1767+319C=
ENST00000225964.9:c.1767+319C=	ENSP00000225964.5:n.1767+319C=
ENST00000463440.1:n.476C=
ENST00000471344.1:n.1118C=
ENST00000476387.1:n.116+319C=
NM_000088.3:c.1767+319C= , LRG_1t1:c.1767+319C=	NP_000079.2:n.1767+319C=
XM_005257058.3:c.1767+319C=	XP_005257115.2:n.1767+319C=
XM_005257059.3:c.958-931C=	XP_005257116.2:n.958-931C=
XM_011524341.1:c.1569+319C=	XP_011522643.1:n.1569+319C=
XM_005257058.4:c.1767+319C=	XP_005257115.2:n.1767+319C=
XM_005257059.4:c.958-931C=	XP_005257116.2:n.958-931C=
NM_000088.4:c.1767+319C= MANE Select	NP_000079.2:n.1767+319C=