Canonical Allele Identifier: CA347270450

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73676189C>A (hg19) ; chr2:g.73449062C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73449062C>A , CM000664.2:g.73449062C>A	GRCh38
NC_000002.11:g.73676189C>A , CM000664.1:g.73676189C>A	GRCh37
NC_000002.10:g.73529697C>A	NCBI36
NG_011690.1:g.68310C>A , LRG_741:g.68310C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.2154C>A	ENSP00000507671.1:p.Asp718Glu
ENST00000682801.1:c.2154C>A	ENSP00000507862.1:p.Asp718Glu
ENST00000682859.1:c.2154C>A	ENSP00000508222.1:p.Asp718Glu
ENST00000683791.1:c.685+16771C>A
ENST00000684548.1:c.2154C>A	ENSP00000507421.1:p.Asp718Glu
ENST00000613296.6:c.2535C>A MANE Select	ENSP00000482968.1:p.Asp845Glu
ENST00000484298.5:c.2409C>A	ENSP00000478155.1:p.Asp803Glu
ENST00000613296.4:c.2535C>A	ENSP00000482968.1:p.Asp845Glu
ENST00000614410.4:c.2535C>A	ENSP00000479094.1:p.Asp845Glu
NM_015120.4:c.2538C>A , LRG_741t1:c.2538C>A	NP_055935.4:p.Asp846Glu
NM_001378454.1:c.2535C>A MANE Select	NP_001365383.1:p.Asp845Glu