Canonical Allele Identifier: CA291546319

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 456733
• ClinVar RCV Id: RCV000529907
• dbSNP Id: rs865999256
• gnomAD v2: 17-48272150-C-A
• gnomAD v4: 17-50194789-C-A
• MyVariant Identifiers: chr17:g.48272150C>A (hg19) ; chr17:g.50194789C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194789C>A , CM000679.2:g.50194789C>A	GRCh38
NC_000017.10:g.48272150C>A , CM000679.1:g.48272150C>A	GRCh37
NC_000017.9:g.45627149C>A	NCBI36
NG_007400.1:g.11851G>T , LRG_1:g.11851G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1393G>T MANE Select	ENSP00000225964.6:p.Glu465Ter
ENST00000225964.9:c.1393G>T	ENSP00000225964.5:p.Glu465Ter
ENST00000471344.1:n.337G>T
NM_000088.3:c.1393G>T , LRG_1t1:c.1393G>T	NP_000079.2:p.Glu465Ter
XM_005257058.3:c.1393G>T	XP_005257115.2:p.Glu465Ter
XM_005257059.3:c.957+1525G>T	XP_005257116.2:n.957+1525G>T
XM_011524341.1:c.1195G>T	XP_011522643.1:p.Glu399Ter
XM_005257058.4:c.1393G>T	XP_005257115.2:p.Glu465Ter
XM_005257059.4:c.957+1525G>T	XP_005257116.2:n.957+1525G>T
NM_000088.4:c.1393G>T MANE Select	NP_000079.2:p.Glu465Ter