Canonical Allele Identifier: CA2263915118

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188400C= , CM000679.2:g.50188400C=	GRCh38
NC_000017.10:g.48265761C= , CM000679.1:g.48265761C=	GRCh37
NC_000017.9:g.45620760C=	NCBI36
NG_007400.1:g.18240G= , LRG_1:g.18240G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+130G= MANE Select	ENSP00000225964.6:n.3207+130G=
ENST00000225964.9:c.3207+130G=	ENSP00000225964.5:n.3207+130G=
ENST00000486572.1:n.155G=
ENST00000511732.1:n.281G=
NM_000088.3:c.3207+130G= , LRG_1t1:c.3207+130G=	NP_000079.2:n.3207+130G=
XM_005257058.3:c.2937+130G=	XP_005257115.2:n.2937+130G=
XM_005257059.3:c.2289+130G=	XP_005257116.2:n.2289+130G=
XM_011524341.1:c.3009+130G=	XP_011522643.1:n.3009+130G=
XM_005257058.4:c.2937+130G=	XP_005257115.2:n.2937+130G=
XM_005257059.4:c.2289+130G=	XP_005257116.2:n.2289+130G=
NM_000088.4:c.3207+130G= MANE Select	NP_000079.2:n.3207+130G=