Canonical Allele Identifier: CA2263915124

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188406T= , CM000679.2:g.50188406T=	GRCh38
NC_000017.10:g.48265767T= , CM000679.1:g.48265767T=	GRCh37
NC_000017.9:g.45620766T=	NCBI36
NG_007400.1:g.18234A= , LRG_1:g.18234A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3207+124A= MANE Select	ENSP00000225964.6:n.3207+124A=
ENST00000225964.9:c.3207+124A=	ENSP00000225964.5:n.3207+124A=
ENST00000486572.1:n.149A=
ENST00000511732.1:n.275A=
NM_000088.3:c.3207+124A= , LRG_1t1:c.3207+124A=	NP_000079.2:n.3207+124A=
XM_005257058.3:c.2937+124A=	XP_005257115.2:n.2937+124A=
XM_005257059.3:c.2289+124A=	XP_005257116.2:n.2289+124A=
XM_011524341.1:c.3009+124A=	XP_011522643.1:n.3009+124A=
XM_005257058.4:c.2937+124A=	XP_005257115.2:n.2937+124A=
XM_005257059.4:c.2289+124A=	XP_005257116.2:n.2289+124A=
NM_000088.4:c.3207+124A= MANE Select	NP_000079.2:n.3207+124A=