Canonical Allele Identifier: CA347267242

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717150T>A (hg19) ; chr2:g.73490023T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490023T>A , CM000664.2:g.73490023T>A	GRCh38
NC_000002.11:g.73717150T>A , CM000664.1:g.73717150T>A	GRCh37
NC_000002.10:g.73570658T>A	NCBI36
NG_011690.1:g.109271T>A , LRG_741:g.109271T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7683T>A	ENSP00000507671.1:p.Phe2561Leu
ENST00000682801.1:c.7683T>A	ENSP00000507862.1:p.Phe2561Leu
ENST00000682859.1:c.7683T>A	ENSP00000508222.1:p.Phe2561Leu
ENST00000683791.1:c.1075T>A
ENST00000684460.1:c.5135T>A
ENST00000684548.1:c.7683T>A	ENSP00000507421.1:p.Phe2561Leu
ENST00000684590.1:c.2130T>A	ENSP00000507376.1:p.Phe710Leu
ENST00000684656.1:c.5135T>A
ENST00000613296.6:c.8064T>A MANE Select	ENSP00000482968.1:p.Phe2688Leu
ENST00000651434.1:c.896-29752T>A
ENST00000423048.5:c.2895T>A	ENSP00000399833.1:p.Phe965Leu
ENST00000484298.5:c.7938T>A	ENSP00000478155.1:p.Phe2646Leu
ENST00000613296.4:c.8064T>A	ENSP00000482968.1:p.Phe2688Leu
ENST00000614410.4:c.8064T>A	ENSP00000479094.1:p.Phe2688Leu
ENST00000620466.4:n.1867T>A
NM_015120.4:c.8067T>A , LRG_741t1:c.8067T>A	NP_055935.4:p.Phe2689Leu
NM_001378454.1:c.8064T>A MANE Select	NP_001365383.1:p.Phe2688Leu