Canonical Allele Identifier: CA260309

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 35920
• ClinVar RCV Id: RCV000029575 ; RCV000498745 ; RCV000551341 ; RCV002504826 ; RCV001814012 ; RCV001535575
• dbSNP Id: rs72653173
• gnomAD v4: 17-50188765-G-A
• MyVariant Identifiers: chr17:g.48266126G>A (hg19) ; chr17:g.50188765G>A (hg38)
• PubMed: PMID:11113887 ; PMID:15024745 ; PMID:15241796

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188765G>A , CM000679.2:g.50188765G>A	GRCh38
NC_000017.10:g.48266126G>A , CM000679.1:g.48266126G>A	GRCh37
NC_000017.9:g.45621125G>A	NCBI36
NG_007400.1:g.17875C>T , LRG_1:g.17875C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3076C>T MANE Select	ENSP00000225964.6:p.Arg1026Ter
ENST00000225964.9:c.3076C>T	ENSP00000225964.5:p.Arg1026Ter
ENST00000511732.1:n.20C>T
NM_000088.3:c.3076C>T , LRG_1t1:c.3076C>T	NP_000079.2:p.Arg1026Ter
XM_005257058.3:c.2806C>T	XP_005257115.2:p.Arg936Ter
XM_005257059.3:c.2158C>T	XP_005257116.2:p.Arg720Ter
XM_011524341.1:c.2878C>T	XP_011522643.1:p.Arg960Ter
XM_005257058.4:c.2806C>T	XP_005257115.2:p.Arg936Ter
XM_005257059.4:c.2158C>T	XP_005257116.2:p.Arg720Ter
NM_000088.4:c.3076C>T MANE Select	NP_000079.2:p.Arg1026Ter