Canonical Allele Identifier: CA400222429

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 566008
• ClinVar RCV Id: RCV000685713
• dbSNP Id: rs1567761937
• MyVariant Identifiers: chr17:g.48273983G>C (hg19) ; chr17:g.50196622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50196622G>C , CM000679.2:g.50196622G>C	GRCh38
NC_000017.10:g.48273983G>C , CM000679.1:g.48273983G>C	GRCh37
NC_000017.9:g.45628982G>C	NCBI36
NG_007400.1:g.10018C>G , LRG_1:g.10018C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.853C>G MANE Select	ENSP00000225964.6:p.Pro285Ala
ENST00000225964.9:c.853C>G	ENSP00000225964.5:p.Pro285Ala
ENST00000495677.1:n.580C>G
NM_000088.3:c.853C>G , LRG_1t1:c.853C>G	NP_000079.2:p.Pro285Ala
XM_005257058.3:c.853C>G	XP_005257115.2:p.Pro285Ala
XM_005257059.3:c.853C>G	XP_005257116.2:p.Pro285Ala
XM_011524341.1:c.853C>G	XP_011522643.1:p.Pro285Ala
XM_005257058.4:c.853C>G	XP_005257115.2:p.Pro285Ala
XM_005257059.4:c.853C>G	XP_005257116.2:p.Pro285Ala
NM_000088.4:c.853C>G MANE Select	NP_000079.2:p.Pro285Ala