Canonical Allele Identifier: CA2263918032

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194135G= , CM000679.2:g.50194135G=	GRCh38
NC_000017.10:g.48271496G= , CM000679.1:g.48271496G=	GRCh37
NC_000017.9:g.45626495G=	NCBI36
NG_007400.1:g.12505C= , LRG_1:g.12505C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1663C= MANE Select	ENSP00000225964.6:p.Pro555=
ENST00000225964.9:c.1663C=	ENSP00000225964.5:p.Pro555=
ENST00000463440.1:n.53C=
ENST00000471344.1:n.607C=
NM_000088.3:c.1663C= , LRG_1t1:c.1663C=	NP_000079.2:p.Pro555=
XM_005257058.3:c.1663C=	XP_005257115.2:p.Pro555=
XM_005257059.3:c.958-1442C=	XP_005257116.2:n.958-1442C=
XM_011524341.1:c.1465C=	XP_011522643.1:p.Pro489=
XM_005257058.4:c.1663C=	XP_005257115.2:p.Pro555=
XM_005257059.4:c.958-1442C=	XP_005257116.2:n.958-1442C=
NM_000088.4:c.1663C= MANE Select	NP_000079.2:p.Pro555=