Canonical Allele Identifier: CA2263918041

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194148A= , CM000679.2:g.50194148A=	GRCh38
NC_000017.10:g.48271509A= , CM000679.1:g.48271509A=	GRCh37
NC_000017.9:g.45626508A=	NCBI36
NG_007400.1:g.12492T= , LRG_1:g.12492T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1650T= MANE Select	ENSP00000225964.6:p.Asp550=
ENST00000225964.9:c.1650T=	ENSP00000225964.5:p.Asp550=
ENST00000463440.1:n.40T=
ENST00000471344.1:n.594T=
NM_000088.3:c.1650T= , LRG_1t1:c.1650T=	NP_000079.2:p.Asp550=
XM_005257058.3:c.1650T=	XP_005257115.2:p.Asp550=
XM_005257059.3:c.958-1455T=	XP_005257116.2:n.958-1455T=
XM_011524341.1:c.1452T=	XP_011522643.1:p.Asp484=
XM_005257058.4:c.1650T=	XP_005257115.2:p.Asp550=
XM_005257059.4:c.958-1455T=	XP_005257116.2:n.958-1455T=
NM_000088.4:c.1650T= MANE Select	NP_000079.2:p.Asp550=