Canonical Allele Identifier: CA8644548

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 324103
• ClinVar RCV Id: RCV000274658 ; RCV000329876 ; RCV000389062 ; RCV000828389 ; RCV000765370 ; RCV001084727
• dbSNP Id: rs575285203
• ExAC: 17:48265929 C / T
• gnomAD v2: 17-48265929-C-T
• gnomAD v3: 17-50188568-C-T
• gnomAD v4: 17-50188568-C-T
• COSMIC: COSM1248784
• MyVariant Identifiers: chr17:g.48265929C>T (hg19) ; chr17:g.50188568C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188568C>T , CM000679.2:g.50188568C>T	GRCh38
NC_000017.10:g.48265929C>T , CM000679.1:g.48265929C>T	GRCh37
NC_000017.9:g.45620928C>T	NCBI36
NG_007400.1:g.18072G>A , LRG_1:g.18072G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3169G>A MANE Select	ENSP00000225964.6:p.Val1057Ile
ENST00000225964.9:c.3169G>A	ENSP00000225964.5:p.Val1057Ile
ENST00000511732.1:n.113G>A
NM_000088.3:c.3169G>A , LRG_1t1:c.3169G>A	NP_000079.2:p.Val1057Ile
XM_005257058.3:c.2899G>A	XP_005257115.2:p.Val967Ile
XM_005257059.3:c.2251G>A	XP_005257116.2:p.Val751Ile
XM_011524341.1:c.2971G>A	XP_011522643.1:p.Val991Ile
XM_005257058.4:c.2899G>A	XP_005257115.2:p.Val967Ile
XM_005257059.4:c.2251G>A	XP_005257116.2:p.Val751Ile
NM_000088.4:c.3169G>A MANE Select	NP_000079.2:p.Val1057Ile