Canonical Allele Identifier: CA2263917294

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193041G= , CM000679.2:g.50193041G=	GRCh38
NC_000017.10:g.48270402G= , CM000679.1:g.48270402G=	GRCh37
NC_000017.9:g.45625401G=	NCBI36
NG_007400.1:g.13599C= , LRG_1:g.13599C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1774C= MANE Select	ENSP00000225964.6:p.Pro592=
ENST00000225964.9:c.1774C=	ENSP00000225964.5:p.Pro592=
ENST00000476387.1:n.123C=
NM_000088.3:c.1774C= , LRG_1t1:c.1774C=	NP_000079.2:p.Pro592=
XM_005257058.3:c.1774C=	XP_005257115.2:p.Pro592=
XM_005257059.3:c.958-348C=	XP_005257116.2:n.958-348C=
XM_011524341.1:c.1576C=	XP_011522643.1:p.Pro526=
XM_005257058.4:c.1774C=	XP_005257115.2:p.Pro592=
XM_005257059.4:c.958-348C=	XP_005257116.2:n.958-348C=
NM_000088.4:c.1774C= MANE Select	NP_000079.2:p.Pro592=