Canonical Allele Identifier: CA2263917917

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193901T= , CM000679.2:g.50193901T=	GRCh38
NC_000017.10:g.48271262T= , CM000679.1:g.48271262T=	GRCh37
NC_000017.9:g.45626261T=	NCBI36
NG_007400.1:g.12739A= , LRG_1:g.12739A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+42A= MANE Select	ENSP00000225964.6:n.1767+42A=
ENST00000225964.9:c.1767+42A=	ENSP00000225964.5:n.1767+42A=
ENST00000463440.1:n.199A=
ENST00000471344.1:n.841A=
ENST00000476387.1:n.116+42A=
NM_000088.3:c.1767+42A= , LRG_1t1:c.1767+42A=	NP_000079.2:n.1767+42A=
XM_005257058.3:c.1767+42A=	XP_005257115.2:n.1767+42A=
XM_005257059.3:c.958-1208A=	XP_005257116.2:n.958-1208A=
XM_011524341.1:c.1569+42A=	XP_011522643.1:n.1569+42A=
XM_005257058.4:c.1767+42A=	XP_005257115.2:n.1767+42A=
XM_005257059.4:c.958-1208A=	XP_005257116.2:n.958-1208A=
NM_000088.4:c.1767+42A= MANE Select	NP_000079.2:n.1767+42A=