Canonical Allele Identifier: CA8644586

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 526861
• ClinVar RCV Id: RCV001566557 ; RCV002279451 ; RCV002279450 ; RCV000631488 ; RCV002448936 ; RCV003330848
• dbSNP Id: rs139593707
• ExAC: 17:48266141 C / G
• gnomAD v2: 17-48266141-C-G
• gnomAD v3: 17-50188780-C-G
• gnomAD v4: 17-50188780-C-G
• MyVariant Identifiers: chr17:g.48266141C>G (hg19) ; chr17:g.50188780C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188780C>G , CM000679.2:g.50188780C>G	GRCh38
NC_000017.10:g.48266141C>G , CM000679.1:g.48266141C>G	GRCh37
NC_000017.9:g.45621140C>G	NCBI36
NG_007400.1:g.17860G>C , LRG_1:g.17860G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3061G>C MANE Select	ENSP00000225964.6:p.Glu1021Gln
ENST00000225964.9:c.3061G>C	ENSP00000225964.5:p.Glu1021Gln
ENST00000511732.1:n.5G>C
NM_000088.3:c.3061G>C , LRG_1t1:c.3061G>C	NP_000079.2:p.Glu1021Gln
XM_005257058.3:c.2791G>C	XP_005257115.2:p.Glu931Gln
XM_005257059.3:c.2143G>C	XP_005257116.2:p.Glu715Gln
XM_011524341.1:c.2863G>C	XP_011522643.1:p.Glu955Gln
XM_005257058.4:c.2791G>C	XP_005257115.2:p.Glu931Gln
XM_005257059.4:c.2143G>C	XP_005257116.2:p.Glu715Gln
NM_000088.4:c.3061G>C MANE Select	NP_000079.2:p.Glu1021Gln