Canonical Allele Identifier: CA260284

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 35906
• ClinVar RCV Id: RCV000029561 ; RCV000585102 ; RCV001087782 ; RCV002408480
• dbSNP Id: rs113950465
• ExAC: 17:48270048 C / T
• gnomAD v2: 17-48270048-C-T
• gnomAD v3: 17-50192687-C-T
• gnomAD v4: 17-50192687-C-T
• MyVariant Identifiers: chr17:g.48270048C>T (hg19) ; chr17:g.50192687C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192687C>T , CM000679.2:g.50192687C>T	GRCh38
NC_000017.10:g.48270048C>T , CM000679.1:g.48270048C>T	GRCh37
NC_000017.9:g.45625047C>T	NCBI36
NG_007400.1:g.13953G>A , LRG_1:g.13953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1882G>A MANE Select	ENSP00000225964.6:p.Ala628Thr
ENST00000225964.9:c.1882G>A	ENSP00000225964.5:p.Ala628Thr
ENST00000476387.1:n.231G>A
NM_000088.3:c.1882G>A , LRG_1t1:c.1882G>A	NP_000079.2:p.Ala628Thr
XM_005257058.3:c.1882G>A	XP_005257115.2:p.Ala628Thr
XM_005257059.3:c.964G>A	XP_005257116.2:p.Ala322Thr
XM_011524341.1:c.1684G>A	XP_011522643.1:p.Ala562Thr
XM_005257058.4:c.1882G>A	XP_005257115.2:p.Ala628Thr
XM_005257059.4:c.964G>A	XP_005257116.2:p.Ala322Thr
NM_000088.4:c.1882G>A MANE Select	NP_000079.2:p.Ala628Thr