Canonical Allele Identifier: CA8644177

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 379245
• ClinVar RCV Id: RCV000430536 ; RCV001126857 ; RCV001126859 ; RCV001126858 ; RCV002521553
• dbSNP Id: rs367952133
• ExAC: 17:48262919 C / T
• gnomAD v2: 17-48262919-C-T
• gnomAD v3: 17-50185558-C-T
• gnomAD v4: 17-50185558-C-T
• MyVariant Identifiers: chr17:g.48262919C>T (hg19) ; chr17:g.50185558C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185558C>T , CM000679.2:g.50185558C>T	GRCh38
NC_000017.10:g.48262919C>T , CM000679.1:g.48262919C>T	GRCh37
NC_000017.9:g.45617918C>T	NCBI36
NG_007400.1:g.21082G>A , LRG_1:g.21082G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4339G>A MANE Select	ENSP00000225964.6:p.Val1447Ile
ENST00000225964.9:c.4339G>A	ENSP00000225964.5:p.Val1447Ile
NM_000088.3:c.4339G>A , LRG_1t1:c.4339G>A	NP_000079.2:p.Val1447Ile
XM_005257058.3:c.4069G>A	XP_005257115.2:p.Val1357Ile
XM_005257059.3:c.3421G>A	XP_005257116.2:p.Val1141Ile
XM_011524341.1:c.4141G>A	XP_011522643.1:p.Val1381Ile
XM_005257058.4:c.4069G>A	XP_005257115.2:p.Val1357Ile
XM_005257059.4:c.3421G>A	XP_005257116.2:p.Val1141Ile
NM_000088.4:c.4339G>A MANE Select	NP_000079.2:p.Val1447Ile