Canonical Allele Identifier: CA2263915248

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188633T= , CM000679.2:g.50188633T=	GRCh38
NC_000017.10:g.48265994T= , CM000679.1:g.48265994T=	GRCh37
NC_000017.9:g.45620993T=	NCBI36
NG_007400.1:g.18007A= , LRG_1:g.18007A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3104A= MANE Select	ENSP00000225964.6:p.Asp1035=
ENST00000225964.9:c.3104A=	ENSP00000225964.5:p.Asp1035=
ENST00000511732.1:n.48A=
NM_000088.3:c.3104A= , LRG_1t1:c.3104A=	NP_000079.2:p.Asp1035=
XM_005257058.3:c.2834A=	XP_005257115.2:p.Asp945=
XM_005257059.3:c.2186A=	XP_005257116.2:p.Asp729=
XM_011524341.1:c.2906A=	XP_011522643.1:p.Asp969=
XM_005257058.4:c.2834A=	XP_005257115.2:p.Asp945=
XM_005257059.4:c.2186A=	XP_005257116.2:p.Asp729=
NM_000088.4:c.3104A= MANE Select	NP_000079.2:p.Asp1035=