Canonical Allele Identifier: CA2263913582

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185375A= , CM000679.2:g.50185375A=	GRCh38
NC_000017.10:g.48262736A= , CM000679.1:g.48262736A=	GRCh37
NC_000017.9:g.45617735A=	NCBI36
NG_007400.1:g.21265T= , LRG_1:g.21265T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*127T= MANE Select	ENSP00000225964.6:n.*127T=
ENST00000225964.9:c.*127T=	ENSP00000225964.5:n.*127T=
NM_000088.3:c.*127T= , LRG_1t1:c.*127T=	NP_000079.2:n.*127T=
XM_005257058.3:c.*127T=	XP_005257115.2:n.*127T=
XM_005257059.3:c.*127T=	XP_005257116.2:n.*127T=
XM_011524341.1:c.*127T=	XP_011522643.1:n.*127T=
XM_005257058.4:c.*127T=	XP_005257115.2:n.*127T=
XM_005257059.4:c.*127T=	XP_005257116.2:n.*127T=
NM_000088.4:c.*127T= MANE Select	NP_000079.2:n.*127T=