Canonical Allele Identifier: CA8644545

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 1312639
• ClinVar RCV Id: RCV001763645 ; RCV003517346
• dbSNP Id: rs752075205
• ExAC: 17:48265901 C / T
• gnomAD v2: 17-48265901-C-T
• gnomAD v3: 17-50188540-C-T
• gnomAD v4: 17-50188540-C-T
• MyVariant Identifiers: chr17:g.48265901C>T (hg19) ; chr17:g.50188540C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188540C>T , CM000679.2:g.50188540C>T	GRCh38
NC_000017.10:g.48265901C>T , CM000679.1:g.48265901C>T	GRCh37
NC_000017.9:g.45620900C>T	NCBI36
NG_007400.1:g.18100G>A , LRG_1:g.18100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3197G>A MANE Select	ENSP00000225964.6:p.Arg1066His
ENST00000225964.9:c.3197G>A	ENSP00000225964.5:p.Arg1066His
ENST00000486572.1:n.15G>A
ENST00000511732.1:n.141G>A
NM_000088.3:c.3197G>A , LRG_1t1:c.3197G>A	NP_000079.2:p.Arg1066His
XM_005257058.3:c.2927G>A	XP_005257115.2:p.Arg976His
XM_005257059.3:c.2279G>A	XP_005257116.2:p.Arg760His
XM_011524341.1:c.2999G>A	XP_011522643.1:p.Arg1000His
XM_005257058.4:c.2927G>A	XP_005257115.2:p.Arg976His
XM_005257059.4:c.2279G>A	XP_005257116.2:p.Arg760His
NM_000088.4:c.3197G>A MANE Select	NP_000079.2:p.Arg1066His