Canonical Allele Identifier: CA2581198542
Community Standard Title: NM_001369268.1(ACAN):c.1221C= (p.Val407=)
Gene: ACAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.88845674C= , CM000677.2:g.88845674C= GRCh38
NC_000015.9:g.89388905C= , CM000677.1:g.89388905C= GRCh37
NC_000015.8:g.87189909C= NCBI36
NG_012794.1:g.47232C=

Transcript Alleles

HGVS Amino-acid Change
NM_001369268.1:c.1221C= MANE Select NP_001356197.1:p.Val407=
ENST00000560601.4:c.1221C= MANE Select ENSP00000453581.2:p.Val407=
NM_001135.3:c.1221C= NP_001126.3:p.Val407=
NM_001135.4:c.1221C= NP_001126.3:p.Val407=
NM_013227.3:c.1221C= NP_037359.3:p.Val407=
NM_013227.4:c.1221C= NP_037359.3:p.Val407=
ENST00000352105.11:c.1221C= ENSP00000341615.7:p.Val407=
ENST00000439576.6:c.1221C= ENSP00000387356.2:p.Val407=
ENST00000439576.7:c.1221C= ENSP00000387356.2:p.Val407=
ENST00000558207.5:c.1221C= ENSP00000453003.1:p.Val407=
ENST00000559004.5:c.1221C= ENSP00000453499.1:p.Val407=
ENST00000561243.5:c.1221C= ENSP00000453342.1:p.Val407=
ENST00000561243.7:c.1221C= ENSP00000453342.3:p.Val407=
ENST00000617301.4:c.1221C= ENSP00000484456.1:p.Val407=
XM_006720419.1:c.1221C= XP_006720482.1:p.Val407=
XM_011521313.1:c.1221C= XP_011519615.1:p.Val407=
XM_011521314.1:c.1221C= XP_011519616.1:p.Val407=