Canonical Allele Identifier: CA347283129

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799486A>T (hg19) ; chr2:g.73572359A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572359A>T , CM000664.2:g.73572359A>T	GRCh38
NC_000002.11:g.73799486A>T , CM000664.1:g.73799486A>T	GRCh37
NC_000002.10:g.73652994A>T	NCBI36
NG_011690.1:g.191607A>T , LRG_741:g.191607A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10101A>T	ENSP00000507671.1:p.Gln3367His
ENST00000682801.1:c.10101A>T	ENSP00000507862.1:p.Gln3367His
ENST00000682859.1:c.10101A>T	ENSP00000508222.1:p.Gln3367His
ENST00000683791.1:c.3187A>T
ENST00000684460.1:c.7382A>T
ENST00000684548.1:c.10101A>T	ENSP00000507421.1:p.Gln3367His
ENST00000684590.1:c.4548A>T	ENSP00000507376.1:p.Gln1516His
ENST00000684656.1:c.7427A>T
ENST00000613296.6:c.10482A>T MANE Select	ENSP00000482968.1:p.Gln3494His
ENST00000651057.1:c.636A>T	ENSP00000498504.1:p.Gln212His
ENST00000651434.1:c.1838A>T
ENST00000652487.1:c.1579A>T
ENST00000423048.5:c.3973A>T	ENSP00000399833.1:n.3973A>T
ENST00000484298.5:c.10356A>T	ENSP00000478155.1:p.Gln3452His
ENST00000613296.4:c.10482A>T	ENSP00000482968.1:p.Gln3494His
ENST00000614410.4:c.10482A>T	ENSP00000479094.1:p.Gln3494His
ENST00000620466.4:n.4285A>T
NM_015120.4:c.10485A>T , LRG_741t1:c.10485A>T	NP_055935.4:p.Gln3495His
NM_001378454.1:c.10482A>T MANE Select	NP_001365383.1:p.Gln3494His