Canonical Allele Identifier: CA8644169

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324095
• ClinVar RCV Id: RCV000313055 ; RCV000338677 ; RCV000407503 ; RCV000798385 ; RCV001590959
• dbSNP Id: rs138557594
• ExAC: 17:48262886 C / T
• gnomAD v2: 17-48262886-C-T
• gnomAD v3: 17-50185525-C-T
• gnomAD v4: 17-50185525-C-T
• MyVariant Identifiers: chr17:g.48262886C>T (hg19) ; chr17:g.50185525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185525C>T , CM000679.2:g.50185525C>T	GRCh38
NC_000017.10:g.48262886C>T , CM000679.1:g.48262886C>T	GRCh37
NC_000017.9:g.45617885C>T	NCBI36
NG_007400.1:g.21115G>A , LRG_1:g.21115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4372G>A MANE Select	ENSP00000225964.6:p.Val1458Ile
ENST00000225964.9:c.4372G>A	ENSP00000225964.5:p.Val1458Ile
NM_000088.3:c.4372G>A , LRG_1t1:c.4372G>A	NP_000079.2:p.Val1458Ile
XM_005257058.3:c.4102G>A	XP_005257115.2:p.Val1368Ile
XM_005257059.3:c.3454G>A	XP_005257116.2:p.Val1152Ile
XM_011524341.1:c.4174G>A	XP_011522643.1:p.Val1392Ile
XM_005257058.4:c.4102G>A	XP_005257115.2:p.Val1368Ile
XM_005257059.4:c.3454G>A	XP_005257116.2:p.Val1152Ile
NM_000088.4:c.4372G>A MANE Select	NP_000079.2:p.Val1458Ile