Canonical Allele Identifier: CA2263917965

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194016G= , CM000679.2:g.50194016G=	GRCh38
NC_000017.10:g.48271377G= , CM000679.1:g.48271377G=	GRCh37
NC_000017.9:g.45626376G=	NCBI36
NG_007400.1:g.12624C= , LRG_1:g.12624C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1694C= MANE Select	ENSP00000225964.6:p.Pro565=
ENST00000225964.9:c.1694C=	ENSP00000225964.5:p.Pro565=
ENST00000463440.1:n.84C=
ENST00000471344.1:n.726C=
ENST00000476387.1:n.43C=
NM_000088.3:c.1694C= , LRG_1t1:c.1694C=	NP_000079.2:p.Pro565=
XM_005257058.3:c.1694C=	XP_005257115.2:p.Pro565=
XM_005257059.3:c.958-1323C=	XP_005257116.2:n.958-1323C=
XM_011524341.1:c.1496C=	XP_011522643.1:p.Pro499=
XM_005257058.4:c.1694C=	XP_005257115.2:p.Pro565=
XM_005257059.4:c.958-1323C=	XP_005257116.2:n.958-1323C=
NM_000088.4:c.1694C= MANE Select	NP_000079.2:p.Pro565=