Canonical Allele Identifier: CA393727033

Gene: ACAN

Linked Data

• dbSNP Id: rs1334810359
• gnomAD v2: 15-89402149-C-A
• gnomAD v4: 15-88858918-C-A
• MyVariant Identifiers: chr15:g.89402149C>A (hg19) ; chr15:g.88858918C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88858918C>A , CM000677.2:g.88858918C>A	GRCh38
NC_000015.9:g.89402149C>A , CM000677.1:g.89402149C>A	GRCh37
NC_000015.8:g.87203153C>A	NCBI36
NG_012794.1:g.60476C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000439576.7:c.6333C>A	ENSP00000387356.2:p.Phe2111Leu
ENST00000560601.4:c.6333C>A MANE Select	ENSP00000453581.2:p.Phe2111Leu
ENST00000561243.7:c.6333C>A	ENSP00000453342.3:p.Phe2111Leu
ENST00000352105.11:c.6333C>A	ENSP00000341615.7:p.Phe2111Leu
ENST00000439576.6:c.6333C>A	ENSP00000387356.2:p.Phe2111Leu
ENST00000559004.5:c.6333C>A	ENSP00000453499.1:p.Phe2111Leu
ENST00000561243.5:c.6333C>A	ENSP00000453342.1:p.Phe2111Leu
ENST00000617301.4:c.6276C>A	ENSP00000484456.1:p.Phe2092Leu
NM_001135.3:c.6333C>A	NP_001126.3:p.Phe2111Leu
NM_013227.3:c.6333C>A	NP_037359.3:p.Phe2111Leu
XM_006720419.1:c.6333C>A	XP_006720482.1:p.Phe2111Leu
XM_011521313.1:c.6333C>A	XP_011519615.1:p.Phe2111Leu
XM_011521314.1:c.6333C>A	XP_011519616.1:p.Phe2111Leu
NM_001369268.1:c.6333C>A MANE Select	NP_001356197.1:p.Phe2111Leu
NM_001135.4:c.6333C>A	NP_001126.3:p.Phe2111Leu
NM_013227.4:c.6333C>A	NP_037359.3:p.Phe2111Leu