Canonical Allele Identifier: CA274470509

Gene: ACAN

Linked Data

• dbSNP Id: rs1002450754
• gnomAD v2: 15-89388824-G-A
• gnomAD v4: 15-88845593-G-A
• MyVariant Identifiers: chr15:g.89388824G>A (hg19) ; chr15:g.88845593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88845593G>A , CM000677.2:g.88845593G>A	GRCh38
NC_000015.9:g.89388824G>A , CM000677.1:g.89388824G>A	GRCh37
NC_000015.8:g.87189828G>A	NCBI36
NG_012794.1:g.47151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439576.7:c.1140G>A	ENSP00000387356.2:p.Met380Ile
ENST00000560601.4:c.1140G>A MANE Select	ENSP00000453581.2:p.Met380Ile
ENST00000561243.7:c.1140G>A	ENSP00000453342.3:p.Met380Ile
ENST00000352105.11:c.1140G>A	ENSP00000341615.7:p.Met380Ile
ENST00000439576.6:c.1140G>A	ENSP00000387356.2:p.Met380Ile
ENST00000558207.5:c.1140G>A	ENSP00000453003.1:p.Met380Ile
ENST00000559004.5:c.1140G>A	ENSP00000453499.1:p.Met380Ile
ENST00000561243.5:c.1140G>A	ENSP00000453342.1:p.Met380Ile
ENST00000617301.4:c.1140G>A	ENSP00000484456.1:p.Met380Ile
NM_001135.3:c.1140G>A	NP_001126.3:p.Met380Ile
NM_013227.3:c.1140G>A	NP_037359.3:p.Met380Ile
XM_006720419.1:c.1140G>A	XP_006720482.1:p.Met380Ile
XM_011521313.1:c.1140G>A	XP_011519615.1:p.Met380Ile
XM_011521314.1:c.1140G>A	XP_011519616.1:p.Met380Ile
NM_001369268.1:c.1140G>A MANE Select	NP_001356197.1:p.Met380Ile
NM_001135.4:c.1140G>A	NP_001126.3:p.Met380Ile
NM_013227.4:c.1140G>A	NP_037359.3:p.Met380Ile