Canonical Allele Identifier: CA8645062

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 2079617
• ClinVar RCV Id: RCV002998655 ; RCV003146711
• dbSNP Id: rs557118570
• ExAC: 17:48270195 T / C
• gnomAD v2: 17-48270195-T-C
• gnomAD v3: 17-50192834-T-C
• gnomAD v4: 17-50192834-T-C
• MyVariant Identifiers: chr17:g.48270195T>C (hg19) ; chr17:g.50192834T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192834T>C , CM000679.2:g.50192834T>C	GRCh38
NC_000017.10:g.48270195T>C , CM000679.1:g.48270195T>C	GRCh37
NC_000017.9:g.45625194T>C	NCBI36
NG_007400.1:g.13806A>G , LRG_1:g.13806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1838A>G MANE Select	ENSP00000225964.6:p.Asp613Gly
ENST00000225964.9:c.1838A>G	ENSP00000225964.5:p.Asp613Gly
ENST00000476387.1:n.187A>G
NM_000088.3:c.1838A>G , LRG_1t1:c.1838A>G	NP_000079.2:p.Asp613Gly
XM_005257058.3:c.1838A>G	XP_005257115.2:p.Asp613Gly
XM_005257059.3:c.958-141A>G	XP_005257116.2:n.958-141A>G
XM_011524341.1:c.1640A>G	XP_011522643.1:p.Asp547Gly
XM_005257058.4:c.1838A>G	XP_005257115.2:p.Asp613Gly
XM_005257059.4:c.958-141A>G	XP_005257116.2:n.958-141A>G
NM_000088.4:c.1838A>G MANE Select	NP_000079.2:p.Asp613Gly