Canonical Allele Identifier: CA347265637

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828367A>T (hg19) ; chr2:g.73601240A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601240A>T , CM000664.2:g.73601240A>T	GRCh38
NC_000002.11:g.73828367A>T , CM000664.1:g.73828367A>T	GRCh37
NC_000002.10:g.73681875A>T	NCBI36
NG_011690.1:g.220488A>T , LRG_741:g.220488A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11537A>T	ENSP00000507671.1:p.Lys3846Met
ENST00000682801.1:c.11167-945A>T	ENSP00000507862.1:n.11167-945A>T
ENST00000682859.1:c.11537A>T	ENSP00000508222.1:p.Lys3846Met
ENST00000683791.1:c.4623A>T
ENST00000684460.1:c.8818A>T
ENST00000684548.1:c.11537A>T	ENSP00000507421.1:p.Lys3846Met
ENST00000684590.1:c.5984A>T	ENSP00000507376.1:p.Lys1995Met
ENST00000684656.1:c.9002A>T
ENST00000613296.6:c.11918A>T MANE Select	ENSP00000482968.1:p.Lys3973Met
ENST00000651057.1:c.2072A>T	ENSP00000498504.1:p.Lys691Met
ENST00000651434.1:c.3274A>T
ENST00000651750.1:c.1260+359A>T
ENST00000652487.1:c.3089A>T
ENST00000464408.3:n.93A>T
ENST00000484298.5:c.11792A>T	ENSP00000478155.1:p.Lys3931Met
ENST00000613296.4:c.11918A>T	ENSP00000482968.1:p.Lys3973Met
ENST00000620466.4:n.5721A>T
NM_015120.4:c.11921A>T , LRG_741t1:c.11921A>T	NP_055935.4:p.Lys3974Met
NM_001378454.1:c.11918A>T MANE Select	NP_001365383.1:p.Lys3973Met