Canonical Allele Identifier: CA347280017

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451644C>T , CM000664.2:g.73451644C>T	GRCh38
NC_000002.11:g.73678771C>T , CM000664.1:g.73678771C>T	GRCh37
NC_000002.10:g.73532279C>T	NCBI36
NG_011690.1:g.70892C>T , LRG_741:g.70892C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5117C>T MANE Select	NP_001365383.1:p.Ser1706Leu
ENST00000613296.6:c.5117C>T MANE Select	ENSP00000482968.1:p.Ser1706Leu
NM_015120.4:c.5120C>T , LRG_741t1:c.5120C>T	NP_055935.4:p.Ser1707Leu
ENST00000484298.5:c.4991C>T	ENSP00000478155.1:p.Ser1664Leu
ENST00000613296.4:c.5117C>T	ENSP00000482968.1:p.Ser1706Leu
ENST00000614410.4:c.5117C>T	ENSP00000479094.1:p.Ser1706Leu
ENST00000682565.1:c.4736C>T	ENSP00000507671.1:p.Ser1579Leu
ENST00000682801.1:c.4736C>T	ENSP00000507862.1:p.Ser1579Leu
ENST00000682859.1:c.4736C>T	ENSP00000508222.1:p.Ser1579Leu
ENST00000683791.1:c.685+19353C>T
ENST00000684197.1:n.86C>T
ENST00000684460.1:c.2188C>T
ENST00000684548.1:c.4736C>T	ENSP00000507421.1:p.Ser1579Leu
ENST00000684656.1:c.2188C>T