Canonical Allele Identifier: CA347282830

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799439T>A (hg19) ; chr2:g.73572312T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10054T>A	ENSP00000507671.1:p.Ser3352Thr
ENST00000682801.1:c.10054T>A	ENSP00000507862.1:p.Ser3352Thr
ENST00000682859.1:c.10054T>A	ENSP00000508222.1:p.Ser3352Thr
ENST00000683791.1:c.3140T>A
ENST00000684460.1:c.7335T>A
ENST00000684548.1:c.10054T>A	ENSP00000507421.1:p.Ser3352Thr
ENST00000684590.1:c.4501T>A	ENSP00000507376.1:p.Ser1501Thr
ENST00000684656.1:c.7380T>A
ENST00000613296.6:c.10435T>A MANE Select	ENSP00000482968.1:p.Ser3479Thr
ENST00000651057.1:c.589T>A	ENSP00000498504.1:p.Ser197Thr
ENST00000651434.1:c.1791T>A
ENST00000652487.1:c.1532T>A
ENST00000423048.5:c.3926T>A	ENSP00000399833.1:n.3926T>A
ENST00000484298.5:c.10309T>A	ENSP00000478155.1:p.Ser3437Thr
ENST00000613296.4:c.10435T>A	ENSP00000482968.1:p.Ser3479Thr
ENST00000614410.4:c.10435T>A	ENSP00000479094.1:p.Ser3479Thr
ENST00000620466.4:n.4238T>A
NM_015120.4:c.10438T>A , LRG_741t1:c.10438T>A	NP_055935.4:p.Ser3480Thr
NM_001378454.1:c.10435T>A MANE Select	NP_001365383.1:p.Ser3479Thr