Canonical Allele Identifier: CA400224214

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 931153
• ClinVar RCV Id: RCV001197453 ; RCV002560234
• dbSNP Id: rs1907672538
• MyVariant Identifiers: chr17:g.48274564C>A (hg19) ; chr17:g.50197203C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50197203C>A , CM000679.2:g.50197203C>A	GRCh38
NC_000017.10:g.48274564C>A , CM000679.1:g.48274564C>A	GRCh37
NC_000017.9:g.45629563C>A	NCBI36
NG_007400.1:g.9437G>T , LRG_1:g.9437G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.727G>T MANE Select	ENSP00000225964.6:p.Glu243Ter
ENST00000225964.9:c.727G>T	ENSP00000225964.5:p.Glu243Ter
ENST00000495677.1:n.454G>T
NM_000088.3:c.727G>T , LRG_1t1:c.727G>T	NP_000079.2:p.Glu243Ter
XM_005257058.3:c.727G>T	XP_005257115.2:p.Glu243Ter
XM_005257059.3:c.727G>T	XP_005257116.2:p.Glu243Ter
XM_011524341.1:c.727G>T	XP_011522643.1:p.Glu243Ter
XM_005257058.4:c.727G>T	XP_005257115.2:p.Glu243Ter
XM_005257059.4:c.727G>T	XP_005257116.2:p.Glu243Ter
NM_000088.4:c.727G>T MANE Select	NP_000079.2:p.Glu243Ter