Canonical Allele Identifier: CA2263915224

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188592C= , CM000679.2:g.50188592C=	GRCh38
NC_000017.10:g.48265953C= , CM000679.1:g.48265953C=	GRCh37
NC_000017.9:g.45620952C=	NCBI36
NG_007400.1:g.18048G= , LRG_1:g.18048G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3145G= MANE Select	ENSP00000225964.6:p.Gly1049=
ENST00000225964.9:c.3145G=	ENSP00000225964.5:p.Gly1049=
ENST00000511732.1:n.89G=
NM_000088.3:c.3145G= , LRG_1t1:c.3145G=	NP_000079.2:p.Gly1049=
XM_005257058.3:c.2875G=	XP_005257115.2:p.Gly959=
XM_005257059.3:c.2227G=	XP_005257116.2:p.Gly743=
XM_011524341.1:c.2947G=	XP_011522643.1:p.Gly983=
XM_005257058.4:c.2875G=	XP_005257115.2:p.Gly959=
XM_005257059.4:c.2227G=	XP_005257116.2:p.Gly743=
NM_000088.4:c.3145G= MANE Select	NP_000079.2:p.Gly1049=