Canonical Allele Identifier: CA2263913871

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185828C= , CM000679.2:g.50185828C=	GRCh38
NC_000017.10:g.48263189C= , CM000679.1:g.48263189C=	GRCh37
NC_000017.9:g.45618188C=	NCBI36
NG_007400.1:g.20812G= , LRG_1:g.20812G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4198G= MANE Select	ENSP00000225964.6:p.Ala1400=
ENST00000225964.9:c.4198G=	ENSP00000225964.5:p.Ala1400=
NM_000088.3:c.4198G= , LRG_1t1:c.4198G=	NP_000079.2:p.Ala1400=
XM_005257058.3:c.3928G=	XP_005257115.2:p.Ala1310=
XM_005257059.3:c.3280G=	XP_005257116.2:p.Ala1094=
XM_011524341.1:c.4000G=	XP_011522643.1:p.Ala1334=
XM_005257058.4:c.3928G=	XP_005257115.2:p.Ala1310=
XM_005257059.4:c.3280G=	XP_005257116.2:p.Ala1094=
NM_000088.4:c.4198G= MANE Select	NP_000079.2:p.Ala1400=