Canonical Allele Identifier: CA2739291025

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50199255dup , CM000679.2:g.50199255dup	GRCh38
NC_000017.10:g.48276616dup , CM000679.1:g.48276616dup	GRCh37
NC_000017.9:g.45631615dup	NCBI36
NG_007400.1:g.7386dup , LRG_1:g.7386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.443dup MANE Select	ENSP00000225964.6:p.Pro149ThrfsTer20
ENST00000225964.9:c.443dup	ENSP00000225964.5:p.Pro149ThrfsTer20
NM_000088.3:c.443dup , LRG_1t1:c.443dup	NP_000079.2:p.Pro149ThrfsTer20
XM_005257058.3:c.443dup	XP_005257115.2:p.Pro149ThrfsTer20
XM_005257059.3:c.443dup	XP_005257116.2:p.Pro149ThrfsTer20
XM_011524341.1:c.443dup	XP_011522643.1:p.Pro149ThrfsTer20
XM_005257058.4:c.443dup	XP_005257115.2:p.Pro149ThrfsTer20
XM_005257059.4:c.443dup	XP_005257116.2:p.Pro149ThrfsTer20
NM_000088.4:c.443dup MANE Select	NP_000079.2:p.Pro149ThrfsTer20