Canonical Allele Identifier: CA400217650

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2094263
• ClinVar RCV Id: RCV003010240
• MyVariant Identifiers: chr17:g.48272099C>G (hg19) ; chr17:g.50194738C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194738C>G , CM000679.2:g.50194738C>G	GRCh38
NC_000017.10:g.48272099C>G , CM000679.1:g.48272099C>G	GRCh37
NC_000017.9:g.45627098C>G	NCBI36
NG_007400.1:g.11902G>C , LRG_1:g.11902G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1444G>C MANE Select	ENSP00000225964.6:p.Gly482Arg
ENST00000225964.9:c.1444G>C	ENSP00000225964.5:p.Gly482Arg
ENST00000471344.1:n.388G>C
NM_000088.3:c.1444G>C , LRG_1t1:c.1444G>C	NP_000079.2:p.Gly482Arg
XM_005257058.3:c.1444G>C	XP_005257115.2:p.Gly482Arg
XM_005257059.3:c.957+1576G>C	XP_005257116.2:n.957+1576G>C
XM_011524341.1:c.1246G>C	XP_011522643.1:p.Gly416Arg
XM_005257058.4:c.1444G>C	XP_005257115.2:p.Gly482Arg
XM_005257059.4:c.957+1576G>C	XP_005257116.2:n.957+1576G>C
NM_000088.4:c.1444G>C MANE Select	NP_000079.2:p.Gly482Arg