Canonical Allele Identifier: CA347267365

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73717170A>G (hg19) ; chr2:g.73490043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490043A>G , CM000664.2:g.73490043A>G	GRCh38
NC_000002.11:g.73717170A>G , CM000664.1:g.73717170A>G	GRCh37
NC_000002.10:g.73570678A>G	NCBI36
NG_011690.1:g.109291A>G , LRG_741:g.109291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7703A>G	ENSP00000507671.1:p.Asp2568Gly
ENST00000682801.1:c.7703A>G	ENSP00000507862.1:p.Asp2568Gly
ENST00000682859.1:c.7703A>G	ENSP00000508222.1:p.Asp2568Gly
ENST00000683791.1:c.1095A>G
ENST00000684460.1:c.5155A>G
ENST00000684548.1:c.7703A>G	ENSP00000507421.1:p.Asp2568Gly
ENST00000684590.1:c.2150A>G	ENSP00000507376.1:p.Asp717Gly
ENST00000684656.1:c.5155A>G
ENST00000613296.6:c.8084A>G MANE Select	ENSP00000482968.1:p.Asp2695Gly
ENST00000651434.1:c.896-29732A>G
ENST00000423048.5:c.2915A>G	ENSP00000399833.1:p.Asp972Gly
ENST00000484298.5:c.7958A>G	ENSP00000478155.1:p.Asp2653Gly
ENST00000613296.4:c.8084A>G	ENSP00000482968.1:p.Asp2695Gly
ENST00000614410.4:c.8084A>G	ENSP00000479094.1:p.Asp2695Gly
ENST00000620466.4:n.1887A>G
NM_015120.4:c.8087A>G , LRG_741t1:c.8087A>G	NP_055935.4:p.Asp2696Gly
NM_001378454.1:c.8084A>G MANE Select	NP_001365383.1:p.Asp2695Gly