Canonical Allele Identifier: CA347283990

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799598T>C (hg19) ; chr2:g.73572471T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572471T>C , CM000664.2:g.73572471T>C	GRCh38
NC_000002.11:g.73799598T>C , CM000664.1:g.73799598T>C	GRCh37
NC_000002.10:g.73653106T>C	NCBI36
NG_011690.1:g.191719T>C , LRG_741:g.191719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10213T>C	ENSP00000507671.1:p.Tyr3405His
ENST00000682801.1:c.10213T>C	ENSP00000507862.1:p.Tyr3405His
ENST00000682859.1:c.10213T>C	ENSP00000508222.1:p.Tyr3405His
ENST00000683791.1:c.3299T>C
ENST00000684460.1:c.7494T>C
ENST00000684548.1:c.10213T>C	ENSP00000507421.1:p.Tyr3405His
ENST00000684590.1:c.4660T>C	ENSP00000507376.1:p.Tyr1554His
ENST00000684656.1:c.7539T>C
ENST00000613296.6:c.10594T>C MANE Select	ENSP00000482968.1:p.Tyr3532His
ENST00000651057.1:c.748T>C	ENSP00000498504.1:p.Tyr250His
ENST00000651434.1:c.1950T>C
ENST00000652487.1:c.1691T>C
ENST00000423048.5:c.4085T>C	ENSP00000399833.1:n.4085T>C
ENST00000484298.5:c.10468T>C	ENSP00000478155.1:p.Tyr3490His
ENST00000613296.4:c.10594T>C	ENSP00000482968.1:p.Tyr3532His
ENST00000614410.4:c.10594T>C	ENSP00000479094.1:p.Tyr3532His
ENST00000620466.4:n.4397T>C
NM_015120.4:c.10597T>C , LRG_741t1:c.10597T>C	NP_055935.4:p.Tyr3533His
NM_001378454.1:c.10594T>C MANE Select	NP_001365383.1:p.Tyr3532His