Canonical Allele Identifier: CA1715245

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73599407A>T , CM000664.2:g.73599407A>T	GRCh38
NC_000002.11:g.73826534A>T , CM000664.1:g.73826534A>T	GRCh37
NC_000002.10:g.73680042A>T	NCBI36
NG_011690.1:g.218655A>T , LRG_741:g.218655A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11554A>T MANE Select	NP_001365383.1:p.Asn3852Tyr
ENST00000613296.6:c.11554A>T MANE Select	ENSP00000482968.1:p.Asn3852Tyr
NM_015120.4:c.11557A>T , LRG_741t1:c.11557A>T	NP_055935.4:p.Asn3853Tyr
ENST00000484298.5:c.11428A>T	ENSP00000478155.1:p.Asn3810Tyr
ENST00000613296.4:c.11554A>T	ENSP00000482968.1:p.Asn3852Tyr
ENST00000620466.4:n.5357A>T
ENST00000651057.1:c.1708A>T	ENSP00000498504.1:p.Asn570Tyr
ENST00000651434.1:c.2910A>T
ENST00000651750.1:c.942A>T
ENST00000652487.1:c.2768+40A>T
ENST00000682565.1:c.11173A>T	ENSP00000507671.1:p.Asn3725Tyr
ENST00000682801.1:c.11167-2778A>T	ENSP00000507862.1:n.11167-2778A>T
ENST00000682859.1:c.11173A>T	ENSP00000508222.1:p.Asn3725Tyr
ENST00000683791.1:c.4259A>T
ENST00000684460.1:c.8454A>T
ENST00000684548.1:c.11173A>T	ENSP00000507421.1:p.Asn3725Tyr
ENST00000684590.1:c.5620A>T	ENSP00000507376.1:p.Asn1874Tyr
ENST00000684656.1:c.8638A>T