Canonical Allele Identifier: CA347286283

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799938A>T (hg19) ; chr2:g.73572811A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572811A>T , CM000664.2:g.73572811A>T	GRCh38
NC_000002.11:g.73799938A>T , CM000664.1:g.73799938A>T	GRCh37
NC_000002.10:g.73653446A>T	NCBI36
NG_011690.1:g.192059A>T , LRG_741:g.192059A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10553A>T	ENSP00000507671.1:p.Gln3518Leu
ENST00000682801.1:c.10553A>T	ENSP00000507862.1:p.Gln3518Leu
ENST00000682859.1:c.10553A>T	ENSP00000508222.1:p.Gln3518Leu
ENST00000683791.1:c.3639A>T
ENST00000684460.1:c.7834A>T
ENST00000684548.1:c.10553A>T	ENSP00000507421.1:p.Gln3518Leu
ENST00000684590.1:c.5000A>T	ENSP00000507376.1:p.Gln1667Leu
ENST00000684656.1:c.7879A>T
ENST00000613296.6:c.10934A>T MANE Select	ENSP00000482968.1:p.Gln3645Leu
ENST00000651057.1:c.1088A>T	ENSP00000498504.1:p.Gln363Leu
ENST00000651434.1:c.2290A>T
ENST00000651750.1:c.322A>T
ENST00000652487.1:c.2031A>T
ENST00000423048.5:c.4425A>T	ENSP00000399833.1:n.4425A>T
ENST00000484298.5:c.10808A>T	ENSP00000478155.1:p.Gln3603Leu
ENST00000613296.4:c.10934A>T	ENSP00000482968.1:p.Gln3645Leu
ENST00000614410.4:c.10934A>T	ENSP00000479094.1:p.Gln3645Leu
ENST00000620466.4:n.4737A>T
NM_015120.4:c.10937A>T , LRG_741t1:c.10937A>T	NP_055935.4:p.Gln3646Leu
NM_001378454.1:c.10934A>T MANE Select	NP_001365383.1:p.Gln3645Leu