Canonical Allele Identifier: CA2263914990

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188122C= , CM000679.2:g.50188122C=	GRCh38
NC_000017.10:g.48265483C= , CM000679.1:g.48265483C=	GRCh37
NC_000017.9:g.45620482C=	NCBI36
NG_007400.1:g.18518G= , LRG_1:g.18518G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3235G= MANE Select	NP_000079.2:p.Gly1079=
ENST00000225964.10:c.3235G= MANE Select	ENSP00000225964.6:p.Gly1079=
NM_000088.3:c.3235G= , LRG_1t1:c.3235G=	NP_000079.2:p.Gly1079=
ENST00000225964.9:c.3235G=	ENSP00000225964.5:p.Gly1079=
ENST00000486572.1:n.433G=
ENST00000511732.1:n.559G=
XM_005257058.3:c.2965G=	XP_005257115.2:p.Gly989=
XM_005257058.4:c.2965G=	XP_005257115.2:p.Gly989=
XM_005257059.3:c.2317G=	XP_005257116.2:p.Gly773=
XM_005257059.4:c.2317G=	XP_005257116.2:p.Gly773=
XM_011524341.1:c.3037G=	XP_011522643.1:p.Gly1013=