Canonical Allele Identifier: CA2263917979

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194037G= , CM000679.2:g.50194037G=	GRCh38
NC_000017.10:g.48271398G= , CM000679.1:g.48271398G=	GRCh37
NC_000017.9:g.45626397G=	NCBI36
NG_007400.1:g.12603C= , LRG_1:g.12603C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1673C= MANE Select	ENSP00000225964.6:p.Pro558=
ENST00000225964.9:c.1673C=	ENSP00000225964.5:p.Pro558=
ENST00000463440.1:n.63C=
ENST00000471344.1:n.705C=
ENST00000476387.1:n.22C=
NM_000088.3:c.1673C= , LRG_1t1:c.1673C=	NP_000079.2:p.Pro558=
XM_005257058.3:c.1673C=	XP_005257115.2:p.Pro558=
XM_005257059.3:c.958-1344C=	XP_005257116.2:n.958-1344C=
XM_011524341.1:c.1475C=	XP_011522643.1:p.Pro492=
XM_005257058.4:c.1673C=	XP_005257115.2:p.Pro558=
XM_005257059.4:c.958-1344C=	XP_005257116.2:n.958-1344C=
NM_000088.4:c.1673C= MANE Select	NP_000079.2:p.Pro558=