Canonical Allele Identifier: CA347266542

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828475A>T (hg19) ; chr2:g.73601348A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601348A>T , CM000664.2:g.73601348A>T	GRCh38
NC_000002.11:g.73828475A>T , CM000664.1:g.73828475A>T	GRCh37
NC_000002.10:g.73681983A>T	NCBI36
NG_011690.1:g.220596A>T , LRG_741:g.220596A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11645A>T	ENSP00000507671.1:p.Gln3882Leu
ENST00000682801.1:c.11167-837A>T	ENSP00000507862.1:n.11167-837A>T
ENST00000682859.1:c.11645A>T	ENSP00000508222.1:p.Gln3882Leu
ENST00000683791.1:c.4731A>T
ENST00000684460.1:c.8926A>T
ENST00000684548.1:c.11645A>T	ENSP00000507421.1:p.Gln3882Leu
ENST00000684590.1:c.6092A>T	ENSP00000507376.1:p.Gln2031Leu
ENST00000684656.1:c.9110A>T
ENST00000613296.6:c.12026A>T MANE Select	ENSP00000482968.1:p.Gln4009Leu
ENST00000651057.1:c.2180A>T	ENSP00000498504.1:p.Gln727Leu
ENST00000651434.1:c.3382A>T
ENST00000651750.1:c.1260+467A>T
ENST00000652487.1:c.3197A>T
ENST00000464408.3:n.201A>T
ENST00000484298.5:c.11900A>T	ENSP00000478155.1:p.Gln3967Leu
ENST00000613296.4:c.12026A>T	ENSP00000482968.1:p.Gln4009Leu
ENST00000620466.4:n.5829A>T
NM_015120.4:c.12029A>T , LRG_741t1:c.12029A>T	NP_055935.4:p.Gln4010Leu
NM_001378454.1:c.12026A>T MANE Select	NP_001365383.1:p.Gln4009Leu