Canonical Allele Identifier: CA2263915021

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188171T= , CM000679.2:g.50188171T=	GRCh38
NC_000017.10:g.48265532T= , CM000679.1:g.48265532T=	GRCh37
NC_000017.9:g.45620531T=	NCBI36
NG_007400.1:g.18469A= , LRG_1:g.18469A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3208-22A= MANE Select	ENSP00000225964.6:n.3208-22A=
ENST00000225964.9:c.3208-22A=	ENSP00000225964.5:n.3208-22A=
ENST00000486572.1:n.384A=
ENST00000511732.1:n.510A=
NM_000088.3:c.3208-22A= , LRG_1t1:c.3208-22A=	NP_000079.2:n.3208-22A=
XM_005257058.3:c.2938-22A=	XP_005257115.2:n.2938-22A=
XM_005257059.3:c.2290-22A=	XP_005257116.2:n.2290-22A=
XM_011524341.1:c.3010-22A=	XP_011522643.1:n.3010-22A=
XM_005257058.4:c.2938-22A=	XP_005257115.2:n.2938-22A=
XM_005257059.4:c.2290-22A=	XP_005257116.2:n.2290-22A=
NM_000088.4:c.3208-22A= MANE Select	NP_000079.2:n.3208-22A=