Canonical Allele Identifier: CA2263914944

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188040G= , CM000679.2:g.50188040G=	GRCh38
NC_000017.10:g.48265401G= , CM000679.1:g.48265401G=	GRCh37
NC_000017.9:g.45620400G=	NCBI36
NG_007400.1:g.18600C= , LRG_1:g.18600C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3262-57C= MANE Select	ENSP00000225964.6:n.3262-57C=
ENST00000225964.9:c.3262-57C=	ENSP00000225964.5:n.3262-57C=
ENST00000486572.1:n.460-57C=
ENST00000511732.1:n.641C=
NM_000088.3:c.3262-57C= , LRG_1t1:c.3262-57C=	NP_000079.2:n.3262-57C=
XM_005257058.3:c.2992-57C=	XP_005257115.2:n.2992-57C=
XM_005257059.3:c.2344-57C=	XP_005257116.2:n.2344-57C=
XM_011524341.1:c.3064-57C=	XP_011522643.1:n.3064-57C=
XM_005257058.4:c.2992-57C=	XP_005257115.2:n.2992-57C=
XM_005257059.4:c.2344-57C=	XP_005257116.2:n.2344-57C=
NM_000088.4:c.3262-57C= MANE Select	NP_000079.2:n.3262-57C=