Canonical Allele Identifier: CA347266660

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717055T>A (hg19) ; chr2:g.73489928T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489928T>A , CM000664.2:g.73489928T>A	GRCh38
NC_000002.11:g.73717055T>A , CM000664.1:g.73717055T>A	GRCh37
NC_000002.10:g.73570563T>A	NCBI36
NG_011690.1:g.109176T>A , LRG_741:g.109176T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7588T>A	ENSP00000507671.1:p.Phe2530Ile
ENST00000682801.1:c.7588T>A	ENSP00000507862.1:p.Phe2530Ile
ENST00000682859.1:c.7588T>A	ENSP00000508222.1:p.Phe2530Ile
ENST00000683791.1:c.980T>A
ENST00000684460.1:c.5040T>A
ENST00000684548.1:c.7588T>A	ENSP00000507421.1:p.Phe2530Ile
ENST00000684590.1:c.2035T>A	ENSP00000507376.1:p.Phe679Ile
ENST00000684656.1:c.5040T>A
ENST00000613296.6:c.7969T>A MANE Select	ENSP00000482968.1:p.Phe2657Ile
ENST00000651434.1:c.896-29847T>A
ENST00000423048.5:c.2800T>A	ENSP00000399833.1:p.Phe934Ile
ENST00000484298.5:c.7843T>A	ENSP00000478155.1:p.Phe2615Ile
ENST00000613296.4:c.7969T>A	ENSP00000482968.1:p.Phe2657Ile
ENST00000614410.4:c.7969T>A	ENSP00000479094.1:p.Phe2657Ile
ENST00000620466.4:n.1772T>A
NM_015120.4:c.7972T>A , LRG_741t1:c.7972T>A	NP_055935.4:p.Phe2658Ile
NM_001378454.1:c.7969T>A MANE Select	NP_001365383.1:p.Phe2657Ile