Canonical Allele Identifier: CA1712886

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73419243G>T , CM000664.2:g.73419243G>T	GRCh38
NC_000002.11:g.73646371G>T , CM000664.1:g.73646371G>T	GRCh37
NC_000002.10:g.73499879G>T	NCBI36
NG_011690.1:g.38489G>T , LRG_741:g.38489G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.571G>T MANE Select	NP_001365383.1:p.Glu191Ter
ENST00000613296.6:c.571G>T MANE Select	ENSP00000482968.1:p.Glu191Ter
NM_015120.4:c.574G>T , LRG_741t1:c.574G>T	NP_055935.4:p.Glu192Ter
ENST00000484298.5:c.445G>T	ENSP00000478155.1:p.Glu149Ter
ENST00000613296.4:c.571G>T	ENSP00000482968.1:p.Glu191Ter
ENST00000614410.4:c.571G>T	ENSP00000479094.1:p.Glu191Ter
ENST00000682565.1:c.121G>T	ENSP00000507671.1:p.Glu41Ter
ENST00000682675.1:n.531G>T
ENST00000682801.1:c.121G>T	ENSP00000507862.1:p.Glu41Ter
ENST00000682859.1:c.121G>T	ENSP00000508222.1:p.Glu41Ter
ENST00000682889.1:n.536G>T
ENST00000684148.1:n.317G>T
ENST00000684548.1:c.121G>T	ENSP00000507421.1:p.Glu41Ter