Canonical Allele Identifier: CA2263919419

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196761G= , CM000679.2:g.50196761G=	GRCh38
NC_000017.10:g.48274122G= , CM000679.1:g.48274122G=	GRCh37
NC_000017.9:g.45629121G=	NCBI36
NG_007400.1:g.9879C= , LRG_1:g.9879C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.805-91C= MANE Select	ENSP00000225964.6:n.805-91C=
ENST00000225964.9:c.805-91C=	ENSP00000225964.5:n.805-91C=
ENST00000495677.1:n.532-91C=
NM_000088.3:c.805-91C= , LRG_1t1:c.805-91C=	NP_000079.2:n.805-91C=
XM_005257058.3:c.805-91C=	XP_005257115.2:n.805-91C=
XM_005257059.3:c.805-91C=	XP_005257116.2:n.805-91C=
XM_011524341.1:c.805-91C=	XP_011522643.1:n.805-91C=
XM_005257058.4:c.805-91C=	XP_005257115.2:n.805-91C=
XM_005257059.4:c.805-91C=	XP_005257116.2:n.805-91C=
NM_000088.4:c.805-91C= MANE Select	NP_000079.2:n.805-91C=