Canonical Allele Identifier: CA2263915005

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188149C= , CM000679.2:g.50188149C=	GRCh38
NC_000017.10:g.48265510C= , CM000679.1:g.48265510C=	GRCh37
NC_000017.9:g.45620509C=	NCBI36
NG_007400.1:g.18491G= , LRG_1:g.18491G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3208G= MANE Select	ENSP00000225964.6:p.Gly1070=
ENST00000225964.9:c.3208G=	ENSP00000225964.5:p.Gly1070=
ENST00000486572.1:n.406G=
ENST00000511732.1:n.532G=
NM_000088.3:c.3208G= , LRG_1t1:c.3208G=	NP_000079.2:p.Gly1070=
XM_005257058.3:c.2938G=	XP_005257115.2:p.Gly980=
XM_005257059.3:c.2290G=	XP_005257116.2:p.Gly764=
XM_011524341.1:c.3010G=	XP_011522643.1:p.Gly1004=
XM_005257058.4:c.2938G=	XP_005257115.2:p.Gly980=
XM_005257059.4:c.2290G=	XP_005257116.2:p.Gly764=
NM_000088.4:c.3208G= MANE Select	NP_000079.2:p.Gly1070=