Canonical Allele Identifier: CA347293214

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73455293A>T , CM000664.2:g.73455293A>T	GRCh38
NC_000002.11:g.73682420A>T , CM000664.1:g.73682420A>T	GRCh37
NC_000002.10:g.73535928A>T	NCBI36
NG_011690.1:g.74541A>T , LRG_741:g.74541A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7672A>T MANE Select	NP_001365383.1:p.Lys2558Ter
ENST00000613296.6:c.7672A>T MANE Select	ENSP00000482968.1:p.Lys2558Ter
NM_015120.4:c.7675A>T , LRG_741t1:c.7675A>T	NP_055935.4:p.Lys2559Ter
ENST00000423048.5:c.2503A>T	ENSP00000399833.1:p.Lys835Ter
ENST00000484298.5:c.7546A>T	ENSP00000478155.1:p.Lys2516Ter
ENST00000613296.4:c.7672A>T	ENSP00000482968.1:p.Lys2558Ter
ENST00000614410.4:c.7672A>T	ENSP00000479094.1:p.Lys2558Ter
ENST00000620466.4:n.1475A>T
ENST00000651434.1:c.893A>T
ENST00000682565.1:c.7291A>T	ENSP00000507671.1:p.Lys2431Ter
ENST00000682801.1:c.7291A>T	ENSP00000507862.1:p.Lys2431Ter
ENST00000682859.1:c.7291A>T	ENSP00000508222.1:p.Lys2431Ter
ENST00000683791.1:c.685+23002A>T
ENST00000684197.1:n.2641A>T
ENST00000684460.1:c.4743A>T
ENST00000684548.1:c.7291A>T	ENSP00000507421.1:p.Lys2431Ter
ENST00000684590.1:c.1738A>T	ENSP00000507376.1:p.Lys580Ter
ENST00000684656.1:c.4743A>T