Canonical Allele Identifier: CA347289561

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453353C>T , CM000664.2:g.73453353C>T	GRCh38
NC_000002.11:g.73680480C>T , CM000664.1:g.73680480C>T	GRCh37
NC_000002.10:g.73533988C>T	NCBI36
NG_011690.1:g.72601C>T , LRG_741:g.72601C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6826C>T MANE Select	NP_001365383.1:p.Arg2276Ter
ENST00000613296.6:c.6826C>T MANE Select	ENSP00000482968.1:p.Arg2276Ter
NM_015120.4:c.6829C>T , LRG_741t1:c.6829C>T	NP_055935.4:p.Arg2277Ter
ENST00000423048.5:c.1657C>T	ENSP00000399833.1:p.Arg553Ter
ENST00000484298.5:c.6700C>T	ENSP00000478155.1:p.Arg2234Ter
ENST00000613296.4:c.6826C>T	ENSP00000482968.1:p.Arg2276Ter
ENST00000614410.4:c.6826C>T	ENSP00000479094.1:p.Arg2276Ter
ENST00000620466.4:n.629C>T
ENST00000651434.1:c.47C>T
ENST00000682565.1:c.6445C>T	ENSP00000507671.1:p.Arg2149Ter
ENST00000682801.1:c.6445C>T	ENSP00000507862.1:p.Arg2149Ter
ENST00000682859.1:c.6445C>T	ENSP00000508222.1:p.Arg2149Ter
ENST00000683791.1:c.685+21062C>T
ENST00000684197.1:n.1795C>T
ENST00000684460.1:c.3897C>T
ENST00000684548.1:c.6445C>T	ENSP00000507421.1:p.Arg2149Ter
ENST00000684590.1:c.943C>T	ENSP00000507376.1:p.Arg315Ter
ENST00000684656.1:c.3897C>T