Canonical Allele Identifier: CA2263915189

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188532T= , CM000679.2:g.50188532T=	GRCh38
NC_000017.10:g.48265893T= , CM000679.1:g.48265893T=	GRCh37
NC_000017.9:g.45620892T=	NCBI36
NG_007400.1:g.18108A= , LRG_1:g.18108A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3205A= MANE Select	ENSP00000225964.6:p.Thr1069=
ENST00000225964.9:c.3205A=	ENSP00000225964.5:p.Thr1069=
ENST00000486572.1:n.23A=
ENST00000511732.1:n.149A=
NM_000088.3:c.3205A= , LRG_1t1:c.3205A=	NP_000079.2:p.Thr1069=
XM_005257058.3:c.2935A=	XP_005257115.2:p.Thr979=
XM_005257059.3:c.2287A=	XP_005257116.2:p.Thr763=
XM_011524341.1:c.3007A=	XP_011522643.1:p.Thr1003=
XM_005257058.4:c.2935A=	XP_005257115.2:p.Thr979=
XM_005257059.4:c.2287A=	XP_005257116.2:p.Thr763=
NM_000088.4:c.3205A= MANE Select	NP_000079.2:p.Thr1069=