Canonical Allele Identifier: CA50392561

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73449993C>T , CM000664.2:g.73449993C>T	GRCh38
NC_000002.11:g.73677120C>T , CM000664.1:g.73677120C>T	GRCh37
NC_000002.10:g.73530628C>T	NCBI36
NG_011690.1:g.69241C>T , LRG_741:g.69241C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.3466C>T MANE Select	NP_001365383.1:p.Gln1156Ter
ENST00000613296.6:c.3466C>T MANE Select	ENSP00000482968.1:p.Gln1156Ter
NM_015120.4:c.3469C>T , LRG_741t1:c.3469C>T	NP_055935.4:p.Gln1157Ter
ENST00000484298.5:c.3340C>T	ENSP00000478155.1:p.Gln1114Ter
ENST00000613296.4:c.3466C>T	ENSP00000482968.1:p.Gln1156Ter
ENST00000614410.4:c.3466C>T	ENSP00000479094.1:p.Gln1156Ter
ENST00000682565.1:c.3085C>T	ENSP00000507671.1:p.Gln1029Ter
ENST00000682801.1:c.3085C>T	ENSP00000507862.1:p.Gln1029Ter
ENST00000682859.1:c.3085C>T	ENSP00000508222.1:p.Gln1029Ter
ENST00000683791.1:c.685+17702C>T
ENST00000684460.1:c.537C>T
ENST00000684548.1:c.3085C>T	ENSP00000507421.1:p.Gln1029Ter
ENST00000684656.1:c.537C>T