Canonical Allele Identifier: CA393726721

Gene: ACAN

Linked Data

• dbSNP Id: rs1311425358
• gnomAD v4: 15-88858767-C-T
• MyVariant Identifiers: chr15:g.89401998C>T (hg19) ; chr15:g.88858767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88858767C>T , CM000677.2:g.88858767C>T	GRCh38
NC_000015.9:g.89401998C>T , CM000677.1:g.89401998C>T	GRCh37
NC_000015.8:g.87203002C>T	NCBI36
NG_012794.1:g.60325C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439576.7:c.6182C>T	ENSP00000387356.2:p.Thr2061Ile
ENST00000560601.4:c.6182C>T MANE Select	ENSP00000453581.2:p.Thr2061Ile
ENST00000561243.7:c.6182C>T	ENSP00000453342.3:p.Thr2061Ile
ENST00000352105.11:c.6182C>T	ENSP00000341615.7:p.Thr2061Ile
ENST00000439576.6:c.6182C>T	ENSP00000387356.2:p.Thr2061Ile
ENST00000559004.5:c.6182C>T	ENSP00000453499.1:p.Thr2061Ile
ENST00000561243.5:c.6182C>T	ENSP00000453342.1:p.Thr2061Ile
ENST00000617301.4:c.6125C>T	ENSP00000484456.1:p.Thr2042Ile
NM_001135.3:c.6182C>T	NP_001126.3:p.Thr2061Ile
NM_013227.3:c.6182C>T	NP_037359.3:p.Thr2061Ile
XM_006720419.1:c.6182C>T	XP_006720482.1:p.Thr2061Ile
XM_011521313.1:c.6182C>T	XP_011519615.1:p.Thr2061Ile
XM_011521314.1:c.6182C>T	XP_011519616.1:p.Thr2061Ile
NM_001369268.1:c.6182C>T MANE Select	NP_001356197.1:p.Thr2061Ile
NM_001135.4:c.6182C>T	NP_001126.3:p.Thr2061Ile
NM_013227.4:c.6182C>T	NP_037359.3:p.Thr2061Ile