Canonical Allele Identifier: CA2263921744

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50201146C= , CM000679.2:g.50201146C=	GRCh38
NC_000017.10:g.48278507C= , CM000679.1:g.48278507C=	GRCh37
NC_000017.9:g.45633506C=	NCBI36
NG_007400.1:g.5494G= , LRG_1:g.5494G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.103+265G= MANE Select	NP_000079.2:n.103+265G=
ENST00000225964.10:c.103+265G= MANE Select	ENSP00000225964.6:n.103+265G=
NM_000088.3:c.103+265G= , LRG_1t1:c.103+265G=	NP_000079.2:n.103+265G=
ENST00000225964.9:c.103+265G=	ENSP00000225964.5:n.103+265G=
ENST00000474644.1:n.222+265G=
XM_005257058.3:c.103+265G=	XP_005257115.2:n.103+265G=
XM_005257058.4:c.103+265G=	XP_005257115.2:n.103+265G=
XM_005257059.3:c.103+265G=	XP_005257116.2:n.103+265G=
XM_005257059.4:c.103+265G=	XP_005257116.2:n.103+265G=
XM_011524341.1:c.103+265G=	XP_011522643.1:n.103+265G=