Canonical Allele Identifier: CA2263918046

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194154A= , CM000679.2:g.50194154A=	GRCh38
NC_000017.10:g.48271515A= , CM000679.1:g.48271515A=	GRCh37
NC_000017.9:g.45626514A=	NCBI36
NG_007400.1:g.12486T= , LRG_1:g.12486T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1644T= MANE Select	ENSP00000225964.6:p.Gly548=
ENST00000225964.9:c.1644T=	ENSP00000225964.5:p.Gly548=
ENST00000463440.1:n.34T=
ENST00000471344.1:n.588T=
NM_000088.3:c.1644T= , LRG_1t1:c.1644T=	NP_000079.2:p.Gly548=
XM_005257058.3:c.1644T=	XP_005257115.2:p.Gly548=
XM_005257059.3:c.958-1461T=	XP_005257116.2:n.958-1461T=
XM_011524341.1:c.1446T=	XP_011522643.1:p.Gly482=
XM_005257058.4:c.1644T=	XP_005257115.2:p.Gly548=
XM_005257059.4:c.958-1461T=	XP_005257116.2:n.958-1461T=
NM_000088.4:c.1644T= MANE Select	NP_000079.2:p.Gly548=