Canonical Allele Identifier: CA2263917946

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193966A= , CM000679.2:g.50193966A=	GRCh38
NC_000017.10:g.48271327A= , CM000679.1:g.48271327A=	GRCh37
NC_000017.9:g.45626326A=	NCBI36
NG_007400.1:g.12674T= , LRG_1:g.12674T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1744T= MANE Select	ENSP00000225964.6:p.Phe582=
ENST00000225964.9:c.1744T=	ENSP00000225964.5:p.Phe582=
ENST00000463440.1:n.134T=
ENST00000471344.1:n.776T=
ENST00000476387.1:n.93T=
NM_000088.3:c.1744T= , LRG_1t1:c.1744T=	NP_000079.2:p.Phe582=
XM_005257058.3:c.1744T=	XP_005257115.2:p.Phe582=
XM_005257059.3:c.958-1273T=	XP_005257116.2:n.958-1273T=
XM_011524341.1:c.1546T=	XP_011522643.1:p.Phe516=
XM_005257058.4:c.1744T=	XP_005257115.2:p.Phe582=
XM_005257059.4:c.958-1273T=	XP_005257116.2:n.958-1273T=
NM_000088.4:c.1744T= MANE Select	NP_000079.2:p.Phe582=