Canonical Allele Identifier: CA347282835

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572312-T-G
• MyVariant Identifiers: chr2:g.73799439T>G (hg19) ; chr2:g.73572312T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572312T>G , CM000664.2:g.73572312T>G	GRCh38
NC_000002.11:g.73799439T>G , CM000664.1:g.73799439T>G	GRCh37
NC_000002.10:g.73652947T>G	NCBI36
NG_011690.1:g.191560T>G , LRG_741:g.191560T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10054T>G	ENSP00000507671.1:p.Ser3352Ala
ENST00000682801.1:c.10054T>G	ENSP00000507862.1:p.Ser3352Ala
ENST00000682859.1:c.10054T>G	ENSP00000508222.1:p.Ser3352Ala
ENST00000683791.1:c.3140T>G
ENST00000684460.1:c.7335T>G
ENST00000684548.1:c.10054T>G	ENSP00000507421.1:p.Ser3352Ala
ENST00000684590.1:c.4501T>G	ENSP00000507376.1:p.Ser1501Ala
ENST00000684656.1:c.7380T>G
ENST00000613296.6:c.10435T>G MANE Select	ENSP00000482968.1:p.Ser3479Ala
ENST00000651057.1:c.589T>G	ENSP00000498504.1:p.Ser197Ala
ENST00000651434.1:c.1791T>G
ENST00000652487.1:c.1532T>G
ENST00000423048.5:c.3926T>G	ENSP00000399833.1:n.3926T>G
ENST00000484298.5:c.10309T>G	ENSP00000478155.1:p.Ser3437Ala
ENST00000613296.4:c.10435T>G	ENSP00000482968.1:p.Ser3479Ala
ENST00000614410.4:c.10435T>G	ENSP00000479094.1:p.Ser3479Ala
ENST00000620466.4:n.4238T>G
NM_015120.4:c.10438T>G , LRG_741t1:c.10438T>G	NP_055935.4:p.Ser3480Ala
NM_001378454.1:c.10435T>G MANE Select	NP_001365383.1:p.Ser3479Ala