Canonical Allele Identifier: CA400215360

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 808291
• ClinVar RCV Id: RCV000996577
• dbSNP Id: rs1457362728
• gnomAD v2: 17-48271353-G-C
• gnomAD v4: 17-50193992-G-C
• MyVariant Identifiers: chr17:g.48271353G>C (hg19) ; chr17:g.50193992G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193992G>C , CM000679.2:g.50193992G>C	GRCh38
NC_000017.10:g.48271353G>C , CM000679.1:g.48271353G>C	GRCh37
NC_000017.9:g.45626352G>C	NCBI36
NG_007400.1:g.12648C>G , LRG_1:g.12648C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1718C>G MANE Select	ENSP00000225964.6:p.Ala573Gly
ENST00000225964.9:c.1718C>G	ENSP00000225964.5:p.Ala573Gly
ENST00000463440.1:n.108C>G
ENST00000471344.1:n.750C>G
ENST00000476387.1:n.67C>G
NM_000088.3:c.1718C>G , LRG_1t1:c.1718C>G	NP_000079.2:p.Ala573Gly
XM_005257058.3:c.1718C>G	XP_005257115.2:p.Ala573Gly
XM_005257059.3:c.958-1299C>G	XP_005257116.2:n.958-1299C>G
XM_011524341.1:c.1520C>G	XP_011522643.1:p.Ala507Gly
XM_005257058.4:c.1718C>G	XP_005257115.2:p.Ala573Gly
XM_005257059.4:c.958-1299C>G	XP_005257116.2:n.958-1299C>G
NM_000088.4:c.1718C>G MANE Select	NP_000079.2:p.Ala573Gly