Canonical Allele Identifier: CA2263919647

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197194G= , CM000679.2:g.50197194G=	GRCh38
NC_000017.10:g.48274555G= , CM000679.1:g.48274555G=	GRCh37
NC_000017.9:g.45629554G=	NCBI36
NG_007400.1:g.9446C= , LRG_1:g.9446C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.736C= MANE Select	ENSP00000225964.6:p.Pro246=
ENST00000225964.9:c.736C=	ENSP00000225964.5:p.Pro246=
ENST00000495677.1:n.463C=
NM_000088.3:c.736C= , LRG_1t1:c.736C=	NP_000079.2:p.Pro246=
XM_005257058.3:c.736C=	XP_005257115.2:p.Pro246=
XM_005257059.3:c.736C=	XP_005257116.2:p.Pro246=
XM_011524341.1:c.736C=	XP_011522643.1:p.Pro246=
XM_005257058.4:c.736C=	XP_005257115.2:p.Pro246=
XM_005257059.4:c.736C=	XP_005257116.2:p.Pro246=
NM_000088.4:c.736C= MANE Select	NP_000079.2:p.Pro246=