Canonical Allele Identifier: CA2263919068

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196103T= , CM000679.2:g.50196103T=	GRCh38
NC_000017.10:g.48273464T= , CM000679.1:g.48273464T=	GRCh37
NC_000017.9:g.45628463T=	NCBI36
NG_007400.1:g.10537A= , LRG_1:g.10537A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.1002+52A= MANE Select	NP_000079.2:n.1002+52A=
ENST00000225964.10:c.1002+52A= MANE Select	ENSP00000225964.6:n.1002+52A=
NM_000088.3:c.1002+52A= , LRG_1t1:c.1002+52A=	NP_000079.2:n.1002+52A=
ENST00000225964.9:c.1002+52A=	ENSP00000225964.5:n.1002+52A=
ENST00000485870.1:n.379A=
XM_005257058.3:c.1002+52A=	XP_005257115.2:n.1002+52A=
XM_005257058.4:c.1002+52A=	XP_005257115.2:n.1002+52A=
XM_005257059.3:c.957+211A=	XP_005257116.2:n.957+211A=
XM_005257059.4:c.957+211A=	XP_005257116.2:n.957+211A=
XM_011524341.1:c.957+211A=	XP_011522643.1:n.957+211A=