Canonical Allele Identifier: CA2695226557

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199291dup , CM000679.2:g.50199291dup	GRCh38
NC_000017.10:g.48276652dup , CM000679.1:g.48276652dup	GRCh37
NC_000017.9:g.45631651dup	NCBI36
NG_007400.1:g.7350dup , LRG_1:g.7350dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.407dup MANE Select	ENSP00000225964.6:p.Gln137ThrfsTer?
ENST00000225964.9:c.407dup	ENSP00000225964.5:p.Gln137ThrfsTer?
ENST00000474644.1:n.628dup
ENST00000507689.1:c.461dup	ENSP00000460459.1:p.Gly154=
NM_000088.3:c.407dup , LRG_1t1:c.407dup	NP_000079.2:p.Gln137ThrfsTer?
XM_005257058.3:c.407dup	XP_005257115.2:p.Gln137ThrfsTer?
XM_005257059.3:c.407dup	XP_005257116.2:p.Gln137ThrfsTer?
XM_011524341.1:c.407dup	XP_011522643.1:p.Gln137ThrfsTer?
XM_005257058.4:c.407dup	XP_005257115.2:p.Gln137ThrfsTer?
XM_005257059.4:c.407dup	XP_005257116.2:p.Gln137ThrfsTer?
NM_000088.4:c.407dup MANE Select	NP_000079.2:p.Gln137ThrfsTer?