Canonical Allele Identifier: CA347286342

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799947A>T (hg19) ; chr2:g.73572820A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572820A>T , CM000664.2:g.73572820A>T	GRCh38
NC_000002.11:g.73799947A>T , CM000664.1:g.73799947A>T	GRCh37
NC_000002.10:g.73653455A>T	NCBI36
NG_011690.1:g.192068A>T , LRG_741:g.192068A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10562A>T	ENSP00000507671.1:p.Glu3521Val
ENST00000682801.1:c.10562A>T	ENSP00000507862.1:p.Glu3521Val
ENST00000682859.1:c.10562A>T	ENSP00000508222.1:p.Glu3521Val
ENST00000683791.1:c.3648A>T
ENST00000684460.1:c.7843A>T
ENST00000684548.1:c.10562A>T	ENSP00000507421.1:p.Glu3521Val
ENST00000684590.1:c.5009A>T	ENSP00000507376.1:p.Glu1670Val
ENST00000684656.1:c.7888A>T
ENST00000613296.6:c.10943A>T MANE Select	ENSP00000482968.1:p.Glu3648Val
ENST00000651057.1:c.1097A>T	ENSP00000498504.1:p.Glu366Val
ENST00000651434.1:c.2299A>T
ENST00000651750.1:c.331A>T
ENST00000652487.1:c.2040A>T
ENST00000423048.5:c.4434A>T	ENSP00000399833.1:n.4434A>T
ENST00000484298.5:c.10817A>T	ENSP00000478155.1:p.Glu3606Val
ENST00000613296.4:c.10943A>T	ENSP00000482968.1:p.Glu3648Val
ENST00000614410.4:c.10943A>T	ENSP00000479094.1:p.Glu3648Val
ENST00000620466.4:n.4746A>T
NM_015120.4:c.10946A>T , LRG_741t1:c.10946A>T	NP_055935.4:p.Glu3649Val
NM_001378454.1:c.10943A>T MANE Select	NP_001365383.1:p.Glu3648Val