Canonical Allele Identifier: CA347289081

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453230A>T , CM000664.2:g.73453230A>T	GRCh38
NC_000002.11:g.73680357A>T , CM000664.1:g.73680357A>T	GRCh37
NC_000002.10:g.73533865A>T	NCBI36
NG_011690.1:g.72478A>T , LRG_741:g.72478A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6703A>T MANE Select	NP_001365383.1:p.Lys2235Ter
ENST00000613296.6:c.6703A>T MANE Select	ENSP00000482968.1:p.Lys2235Ter
NM_015120.4:c.6706A>T , LRG_741t1:c.6706A>T	NP_055935.4:p.Lys2236Ter
ENST00000423048.5:c.1534A>T	ENSP00000399833.1:p.Lys512Ter
ENST00000484298.5:c.6577A>T	ENSP00000478155.1:p.Lys2193Ter
ENST00000613296.4:c.6703A>T	ENSP00000482968.1:p.Lys2235Ter
ENST00000614410.4:c.6703A>T	ENSP00000479094.1:p.Lys2235Ter
ENST00000620466.4:n.506A>T
ENST00000682565.1:c.6322A>T	ENSP00000507671.1:p.Lys2108Ter
ENST00000682801.1:c.6322A>T	ENSP00000507862.1:p.Lys2108Ter
ENST00000682859.1:c.6322A>T	ENSP00000508222.1:p.Lys2108Ter
ENST00000683791.1:c.685+20939A>T
ENST00000684197.1:n.1672A>T
ENST00000684460.1:c.3774A>T
ENST00000684548.1:c.6322A>T	ENSP00000507421.1:p.Lys2108Ter
ENST00000684590.1:c.820A>T	ENSP00000507376.1:p.Lys274Ter
ENST00000684656.1:c.3774A>T