Canonical Allele Identifier: CA17812625

Gene: CLSTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9749910T>A , CM000663.2:g.9749910T>A	GRCh38
NC_000001.10:g.9809968T>A , CM000663.1:g.9809968T>A	GRCh37
NC_000001.9:g.9732555T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001009566.3:c.653A>T MANE Select	NP_001009566.1:p.Tyr218Phe
ENST00000377298.9:c.653A>T MANE Select	ENSP00000366513.4:p.Tyr218Phe
NM_001009566.2:c.653A>T	NP_001009566.1:p.Tyr218Phe
NM_001302883.1:c.653A>T	NP_001289812.1:p.Tyr218Phe
NM_014944.4:c.623A>T	NP_055759.3:p.Tyr208Phe
ENST00000361311.4:c.623A>T	ENSP00000354997.4:p.Tyr208Phe
ENST00000377298.8:c.653A>T	ENSP00000366513.4:p.Tyr218Phe
ENST00000435891.5:c.113A>T	ENSP00000401934.1:p.Tyr38Phe
ENST00000464286.1:n.258A>T
ENST00000650348.1:c.559A>T