Canonical Allele Identifier: CA347284583

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799666G>T (hg19) ; chr2:g.73572539G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572539G>T , CM000664.2:g.73572539G>T	GRCh38
NC_000002.11:g.73799666G>T , CM000664.1:g.73799666G>T	GRCh37
NC_000002.10:g.73653174G>T	NCBI36
NG_011690.1:g.191787G>T , LRG_741:g.191787G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10281G>T	ENSP00000507671.1:p.Leu3427Phe
ENST00000682801.1:c.10281G>T	ENSP00000507862.1:p.Leu3427Phe
ENST00000682859.1:c.10281G>T	ENSP00000508222.1:p.Leu3427Phe
ENST00000683791.1:c.3367G>T
ENST00000684460.1:c.7562G>T
ENST00000684548.1:c.10281G>T	ENSP00000507421.1:p.Leu3427Phe
ENST00000684590.1:c.4728G>T	ENSP00000507376.1:p.Leu1576Phe
ENST00000684656.1:c.7607G>T
ENST00000613296.6:c.10662G>T MANE Select	ENSP00000482968.1:p.Leu3554Phe
ENST00000651057.1:c.816G>T	ENSP00000498504.1:p.Leu272Phe
ENST00000651434.1:c.2018G>T
ENST00000651750.1:c.50G>T
ENST00000652487.1:c.1759G>T
ENST00000423048.5:c.4153G>T	ENSP00000399833.1:n.4153G>T
ENST00000484298.5:c.10536G>T	ENSP00000478155.1:p.Leu3512Phe
ENST00000613296.4:c.10662G>T	ENSP00000482968.1:p.Leu3554Phe
ENST00000614410.4:c.10662G>T	ENSP00000479094.1:p.Leu3554Phe
ENST00000620466.4:n.4465G>T
NM_015120.4:c.10665G>T , LRG_741t1:c.10665G>T	NP_055935.4:p.Leu3555Phe
NM_001378454.1:c.10662G>T MANE Select	NP_001365383.1:p.Leu3554Phe