Canonical Allele Identifier: CA393709435

Gene: ACAN

Linked Data

• ClinVar Variation Id: 1438177
• ClinVar RCV Id: RCV001957777
• dbSNP Id: rs2141581781
• MyVariant Identifiers: chr15:g.89388814G>A (hg19) ; chr15:g.88845583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88845583G>A , CM000677.2:g.88845583G>A	GRCh38
NC_000015.9:g.89388814G>A , CM000677.1:g.89388814G>A	GRCh37
NC_000015.8:g.87189818G>A	NCBI36
NG_012794.1:g.47141G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000439576.7:c.1130G>A	ENSP00000387356.2:p.Trp377Ter
ENST00000560601.4:c.1130G>A MANE Select	ENSP00000453581.2:p.Trp377Ter
ENST00000561243.7:c.1130G>A	ENSP00000453342.3:p.Trp377Ter
ENST00000352105.11:c.1130G>A	ENSP00000341615.7:p.Trp377Ter
ENST00000439576.6:c.1130G>A	ENSP00000387356.2:p.Trp377Ter
ENST00000558207.5:c.1130G>A	ENSP00000453003.1:p.Trp377Ter
ENST00000559004.5:c.1130G>A	ENSP00000453499.1:p.Trp377Ter
ENST00000561243.5:c.1130G>A	ENSP00000453342.1:p.Trp377Ter
ENST00000617301.4:c.1130G>A	ENSP00000484456.1:p.Trp377Ter
NM_001135.3:c.1130G>A	NP_001126.3:p.Trp377Ter
NM_013227.3:c.1130G>A	NP_037359.3:p.Trp377Ter
XM_006720419.1:c.1130G>A	XP_006720482.1:p.Trp377Ter
XM_011521313.1:c.1130G>A	XP_011519615.1:p.Trp377Ter
XM_011521314.1:c.1130G>A	XP_011519616.1:p.Trp377Ter
NM_001369268.1:c.1130G>A MANE Select	NP_001356197.1:p.Trp377Ter
NM_001135.4:c.1130G>A	NP_001126.3:p.Trp377Ter
NM_013227.4:c.1130G>A	NP_037359.3:p.Trp377Ter