Canonical Allele Identifier: CA2263917481

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192660C= , CM000679.2:g.50192660C=	GRCh38
NC_000017.10:g.48270021C= , CM000679.1:g.48270021C=	GRCh37
NC_000017.9:g.45625020C=	NCBI36
NG_007400.1:g.13980G= , LRG_1:g.13980G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1909G= MANE Select	ENSP00000225964.6:p.Ala637=
ENST00000225964.9:c.1909G=	ENSP00000225964.5:p.Ala637=
ENST00000476387.1:n.258G=
NM_000088.3:c.1909G= , LRG_1t1:c.1909G=	NP_000079.2:p.Ala637=
XM_005257058.3:c.1909G=	XP_005257115.2:p.Ala637=
XM_005257059.3:c.991G=	XP_005257116.2:p.Ala331=
XM_011524341.1:c.1711G=	XP_011522643.1:p.Ala571=
XM_005257058.4:c.1909G=	XP_005257115.2:p.Ala637=
XM_005257059.4:c.991G=	XP_005257116.2:p.Ala331=
NM_000088.4:c.1909G= MANE Select	NP_000079.2:p.Ala637=