Canonical Allele Identifier: CA2263918360

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194735G= , CM000679.2:g.50194735G=	GRCh38
NC_000017.10:g.48272096G= , CM000679.1:g.48272096G=	GRCh37
NC_000017.9:g.45627095G=	NCBI36
NG_007400.1:g.11905C= , LRG_1:g.11905C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1447C= MANE Select	ENSP00000225964.6:p.Pro483=
ENST00000225964.9:c.1447C=	ENSP00000225964.5:p.Pro483=
ENST00000471344.1:n.391C=
NM_000088.3:c.1447C= , LRG_1t1:c.1447C=	NP_000079.2:p.Pro483=
XM_005257058.3:c.1447C=	XP_005257115.2:p.Pro483=
XM_005257059.3:c.957+1579C=	XP_005257116.2:n.957+1579C=
XM_011524341.1:c.1249C=	XP_011522643.1:p.Pro417=
XM_005257058.4:c.1447C=	XP_005257115.2:p.Pro483=
XM_005257059.4:c.957+1579C=	XP_005257116.2:n.957+1579C=
NM_000088.4:c.1447C= MANE Select	NP_000079.2:p.Pro483=