Canonical Allele Identifier: CA7719998
Community Standard Title: NM_001369268.1(ACAN):c.4170C>G (p.Asp1390Glu)
Gene: ACAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88856755C>G , CM000677.2:g.88856755C>G GRCh38
NC_000015.9:g.89399986C>G , CM000677.1:g.89399986C>G GRCh37
NC_000015.8:g.87200990C>G NCBI36
NG_012794.1:g.58313C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001369268.1:c.4170C>G MANE Select NP_001356197.1:p.Asp1390Glu
ENST00000560601.4:c.4170C>G MANE Select ENSP00000453581.2:p.Asp1390Glu
NM_001135.3:c.4170C>G NP_001126.3:p.Asp1390Glu
NM_001135.4:c.4170C>G NP_001126.3:p.Asp1390Glu
NM_013227.3:c.4170C>G NP_037359.3:p.Asp1390Glu
NM_013227.4:c.4170C>G NP_037359.3:p.Asp1390Glu
ENST00000352105.11:c.4170C>G ENSP00000341615.7:p.Asp1390Glu
ENST00000439576.6:c.4170C>G ENSP00000387356.2:p.Asp1390Glu
ENST00000439576.7:c.4170C>G ENSP00000387356.2:p.Asp1390Glu
ENST00000559004.5:c.4170C>G ENSP00000453499.1:p.Asp1390Glu
ENST00000561243.5:c.4170C>G ENSP00000453342.1:p.Asp1390Glu
ENST00000561243.7:c.4170C>G ENSP00000453342.3:p.Asp1390Glu
ENST00000617301.4:c.4113C>G ENSP00000484456.1:p.Asp1371Glu
XM_006720419.1:c.4170C>G XP_006720482.1:p.Asp1390Glu
XM_011521313.1:c.4170C>G XP_011519615.1:p.Asp1390Glu
XM_011521314.1:c.4170C>G XP_011519616.1:p.Asp1390Glu