Canonical Allele Identifier: CA2263913750

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185636C= , CM000679.2:g.50185636C=	GRCh38
NC_000017.10:g.48262997C= , CM000679.1:g.48262997C=	GRCh37
NC_000017.9:g.45617996C=	NCBI36
NG_007400.1:g.21004G= , LRG_1:g.21004G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4261G= MANE Select	ENSP00000225964.6:p.Ala1421=
ENST00000225964.9:c.4261G=	ENSP00000225964.5:p.Ala1421=
NM_000088.3:c.4261G= , LRG_1t1:c.4261G=	NP_000079.2:p.Ala1421=
XM_005257058.3:c.3991G=	XP_005257115.2:p.Ala1331=
XM_005257059.3:c.3343G=	XP_005257116.2:p.Ala1115=
XM_011524341.1:c.4063G=	XP_011522643.1:p.Ala1355=
XM_005257058.4:c.3991G=	XP_005257115.2:p.Ala1331=
XM_005257059.4:c.3343G=	XP_005257116.2:p.Ala1115=
NM_000088.4:c.4261G= MANE Select	NP_000079.2:p.Ala1421=