Canonical Allele Identifier: CA2263915196

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188547C= , CM000679.2:g.50188547C=	GRCh38
NC_000017.10:g.48265908C= , CM000679.1:g.48265908C=	GRCh37
NC_000017.9:g.45620907C=	NCBI36
NG_007400.1:g.18093G= , LRG_1:g.18093G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3190G= MANE Select	ENSP00000225964.6:p.Gly1064=
ENST00000225964.9:c.3190G=	ENSP00000225964.5:p.Gly1064=
ENST00000486572.1:n.8G=
ENST00000511732.1:n.134G=
NM_000088.3:c.3190G= , LRG_1t1:c.3190G=	NP_000079.2:p.Gly1064=
XM_005257058.3:c.2920G=	XP_005257115.2:p.Gly974=
XM_005257059.3:c.2272G=	XP_005257116.2:p.Gly758=
XM_011524341.1:c.2992G=	XP_011522643.1:p.Gly998=
XM_005257058.4:c.2920G=	XP_005257115.2:p.Gly974=
XM_005257059.4:c.2272G=	XP_005257116.2:p.Gly758=
NM_000088.4:c.3190G= MANE Select	NP_000079.2:p.Gly1064=