Canonical Allele Identifier: CA347283494

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799544T>G (hg19) ; chr2:g.73572417T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572417T>G , CM000664.2:g.73572417T>G	GRCh38
NC_000002.11:g.73799544T>G , CM000664.1:g.73799544T>G	GRCh37
NC_000002.10:g.73653052T>G	NCBI36
NG_011690.1:g.191665T>G , LRG_741:g.191665T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10159T>G	ENSP00000507671.1:p.Phe3387Val
ENST00000682801.1:c.10159T>G	ENSP00000507862.1:p.Phe3387Val
ENST00000682859.1:c.10159T>G	ENSP00000508222.1:p.Phe3387Val
ENST00000683791.1:c.3245T>G
ENST00000684460.1:c.7440T>G
ENST00000684548.1:c.10159T>G	ENSP00000507421.1:p.Phe3387Val
ENST00000684590.1:c.4606T>G	ENSP00000507376.1:p.Phe1536Val
ENST00000684656.1:c.7485T>G
ENST00000613296.6:c.10540T>G MANE Select	ENSP00000482968.1:p.Phe3514Val
ENST00000651057.1:c.694T>G	ENSP00000498504.1:p.Phe232Val
ENST00000651434.1:c.1896T>G
ENST00000652487.1:c.1637T>G
ENST00000423048.5:c.4031T>G	ENSP00000399833.1:n.4031T>G
ENST00000484298.5:c.10414T>G	ENSP00000478155.1:p.Phe3472Val
ENST00000613296.4:c.10540T>G	ENSP00000482968.1:p.Phe3514Val
ENST00000614410.4:c.10540T>G	ENSP00000479094.1:p.Phe3514Val
ENST00000620466.4:n.4343T>G
NM_015120.4:c.10543T>G , LRG_741t1:c.10543T>G	NP_055935.4:p.Phe3515Val
NM_001378454.1:c.10540T>G MANE Select	NP_001365383.1:p.Phe3514Val