Canonical Allele Identifier: CA393709472

Gene: ACAN

Linked Data

• ClinVar Variation Id: 2430690
• ClinVar RCV Id: RCV003129223
• dbSNP Id: rs1896773119
• MyVariant Identifiers: chr15:g.89388829T>C (hg19) ; chr15:g.88845598T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88845598T>C , CM000677.2:g.88845598T>C	GRCh38
NC_000015.9:g.89388829T>C , CM000677.1:g.89388829T>C	GRCh37
NC_000015.8:g.87189833T>C	NCBI36
NG_012794.1:g.47156T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439576.7:c.1145T>C	ENSP00000387356.2:p.Leu382Pro
ENST00000560601.4:c.1145T>C MANE Select	ENSP00000453581.2:p.Leu382Pro
ENST00000561243.7:c.1145T>C	ENSP00000453342.3:p.Leu382Pro
ENST00000352105.11:c.1145T>C	ENSP00000341615.7:p.Leu382Pro
ENST00000439576.6:c.1145T>C	ENSP00000387356.2:p.Leu382Pro
ENST00000558207.5:c.1145T>C	ENSP00000453003.1:p.Leu382Pro
ENST00000559004.5:c.1145T>C	ENSP00000453499.1:p.Leu382Pro
ENST00000561243.5:c.1145T>C	ENSP00000453342.1:p.Leu382Pro
ENST00000617301.4:c.1145T>C	ENSP00000484456.1:p.Leu382Pro
NM_001135.3:c.1145T>C	NP_001126.3:p.Leu382Pro
NM_013227.3:c.1145T>C	NP_037359.3:p.Leu382Pro
XM_006720419.1:c.1145T>C	XP_006720482.1:p.Leu382Pro
XM_011521313.1:c.1145T>C	XP_011519615.1:p.Leu382Pro
XM_011521314.1:c.1145T>C	XP_011519616.1:p.Leu382Pro
NM_001369268.1:c.1145T>C MANE Select	NP_001356197.1:p.Leu382Pro
NM_001135.4:c.1145T>C	NP_001126.3:p.Leu382Pro
NM_013227.4:c.1145T>C	NP_037359.3:p.Leu382Pro