Canonical Allele Identifier: CA7720367

Gene: ACAN

Linked Data

• ClinVar Variation Id: 1188935
• ClinVar RCV Id: RCV001549043 ; RCV001549204 ; RCV001549205
• dbSNP Id: rs1042630
• ExAC: 15:89402051 A / G
• gnomAD v2: 15-89402051-A-G
• gnomAD v3: 15-88858820-A-G
• gnomAD v4: 15-88858820-A-G
• MyVariant Identifiers: chr15:g.89402051A>G (hg19) ; chr15:g.88858820A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88858820A>G , CM000677.2:g.88858820A>G	GRCh38
NC_000015.9:g.89402051A>G , CM000677.1:g.89402051A>G	GRCh37
NC_000015.8:g.87203055A>G	NCBI36
NG_012794.1:g.60378A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000439576.7:c.6235A>G	ENSP00000387356.2:p.Ile2079Val
ENST00000560601.4:c.6235A>G MANE Select	ENSP00000453581.2:p.Ile2079Val
ENST00000561243.7:c.6235A>G	ENSP00000453342.3:p.Ile2079Val
ENST00000352105.11:c.6235A>G	ENSP00000341615.7:p.Ile2079Val
ENST00000439576.6:c.6235A>G	ENSP00000387356.2:p.Ile2079Val
ENST00000559004.5:c.6235A>G	ENSP00000453499.1:p.Ile2079Val
ENST00000561243.5:c.6235A>G	ENSP00000453342.1:p.Ile2079Val
ENST00000617301.4:c.6178A>G	ENSP00000484456.1:p.Ile2060Val
NM_001135.3:c.6235A>G	NP_001126.3:p.Ile2079Val
NM_013227.3:c.6235A>G	NP_037359.3:p.Ile2079Val
XM_006720419.1:c.6235A>G	XP_006720482.1:p.Ile2079Val
XM_011521313.1:c.6235A>G	XP_011519615.1:p.Ile2079Val
XM_011521314.1:c.6235A>G	XP_011519616.1:p.Ile2079Val
NM_001369268.1:c.6235A>G MANE Select	NP_001356197.1:p.Ile2079Val
NM_001135.4:c.6235A>G	NP_001126.3:p.Ile2079Val
NM_013227.4:c.6235A>G	NP_037359.3:p.Ile2079Val