Canonical Allele Identifier: CA619497336

Gene: ACAN

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88868262C>A , CM000677.2:g.88868262C>A	GRCh38
NC_000015.9:g.89411493C>A , CM000677.1:g.89411493C>A	GRCh37
NC_000015.8:g.87212497C>A	NCBI36
NG_012794.1:g.69820C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369268.1:c.6993C>A MANE Select	NP_001356197.1:p.Cys2331Ter
ENST00000560601.4:c.6993C>A MANE Select	ENSP00000453581.2:p.Cys2331Ter
NM_001135.3:c.6833-3120C>A	NP_001126.3:n.6833-3120C>A
NM_001135.4:c.6833-3120C>A	NP_001126.3:n.6833-3120C>A
NM_013227.3:c.6947-3120C>A	NP_037359.3:n.6947-3120C>A
NM_013227.4:c.6947-3120C>A	NP_037359.3:n.6947-3120C>A
ENST00000352105.11:c.6833-3120C>A	ENSP00000341615.7:n.6833-3120C>A
ENST00000439576.6:c.6947-3120C>A	ENSP00000387356.2:n.6947-3120C>A
ENST00000439576.7:c.6947-3120C>A	ENSP00000387356.2:n.6947-3120C>A
ENST00000559004.5:c.6833-3120C>A	ENSP00000453499.1:n.6833-3120C>A
ENST00000560601.1:c.503C>A
ENST00000561243.5:c.6947-3120C>A	ENSP00000453342.1:n.6947-3120C>A
ENST00000561243.7:c.6879C>A	ENSP00000453342.3:p.Cys2293Ter
ENST00000617301.4:c.6776-3120C>A	ENSP00000484456.1:n.6776-3120C>A
XM_006720419.1:c.6993C>A	XP_006720482.1:p.Cys2331Ter
XM_011521313.1:c.6879C>A	XP_011519615.1:p.Cys2293Ter
XM_011521314.1:c.6833-3120C>A	XP_011519616.1:n.6833-3120C>A