Canonical Allele Identifier: CA291545393

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1773226
• ClinVar RCV Id: RCV002396800
• dbSNP Id: rs983229287
• MyVariant Identifiers: chr17:g.48271985A>C (hg19) ; chr17:g.50194624A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194624A>C , CM000679.2:g.50194624A>C	GRCh38
NC_000017.10:g.48271985A>C , CM000679.1:g.48271985A>C	GRCh37
NC_000017.9:g.45626984A>C	NCBI36
NG_007400.1:g.12016T>G , LRG_1:g.12016T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1464T>G MANE Select	ENSP00000225964.6:p.Gly488=
ENST00000225964.9:c.1464T>G	ENSP00000225964.5:p.Gly488=
ENST00000471344.1:n.408T>G
NM_000088.3:c.1464T>G , LRG_1t1:c.1464T>G	NP_000079.2:p.Gly488=
XM_005257058.3:c.1464T>G	XP_005257115.2:p.Gly488=
XM_005257059.3:c.957+1690T>G	XP_005257116.2:n.957+1690T>G
XM_011524341.1:c.1266T>G	XP_011522643.1:p.Gly422=
XM_005257058.4:c.1464T>G	XP_005257115.2:p.Gly488=
XM_005257059.4:c.957+1690T>G	XP_005257116.2:n.957+1690T>G
NM_000088.4:c.1464T>G MANE Select	NP_000079.2:p.Gly488=