Canonical Allele Identifier: CA8644223

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1488712
• ClinVar RCV Id: RCV001977069 ; RCV004045270
• dbSNP Id: rs769619568
• ExAC: 17:48263159 C / T
• gnomAD v2: 17-48263159-C-T
• gnomAD v3: 17-50185798-C-T
• gnomAD v4: 17-50185798-C-T
• MyVariant Identifiers: chr17:g.48263159C>T (hg19) ; chr17:g.50185798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185798C>T , CM000679.2:g.50185798C>T	GRCh38
NC_000017.10:g.48263159C>T , CM000679.1:g.48263159C>T	GRCh37
NC_000017.9:g.45618158C>T	NCBI36
NG_007400.1:g.20842G>A , LRG_1:g.20842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4228G>A MANE Select	ENSP00000225964.6:p.Val1410Ile
ENST00000225964.9:c.4228G>A	ENSP00000225964.5:p.Val1410Ile
NM_000088.3:c.4228G>A , LRG_1t1:c.4228G>A	NP_000079.2:p.Val1410Ile
XM_005257058.3:c.3958G>A	XP_005257115.2:p.Val1320Ile
XM_005257059.3:c.3310G>A	XP_005257116.2:p.Val1104Ile
XM_011524341.1:c.4030G>A	XP_011522643.1:p.Val1344Ile
XM_005257058.4:c.3958G>A	XP_005257115.2:p.Val1320Ile
XM_005257059.4:c.3310G>A	XP_005257116.2:p.Val1104Ile
NM_000088.4:c.4228G>A MANE Select	NP_000079.2:p.Val1410Ile