Canonical Allele Identifier: CA1712866

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73419144C>T , CM000664.2:g.73419144C>T	GRCh38
NC_000002.11:g.73646272C>T , CM000664.1:g.73646272C>T	GRCh37
NC_000002.10:g.73499780C>T	NCBI36
NG_011690.1:g.38390C>T , LRG_741:g.38390C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.472C>T MANE Select	NP_001365383.1:p.Leu158Phe
ENST00000613296.6:c.472C>T MANE Select	ENSP00000482968.1:p.Leu158Phe
NM_015120.4:c.475C>T , LRG_741t1:c.475C>T	NP_055935.4:p.Leu159Phe
ENST00000484298.5:c.346C>T	ENSP00000478155.1:p.Leu116Phe
ENST00000613296.4:c.472C>T	ENSP00000482968.1:p.Leu158Phe
ENST00000614410.4:c.472C>T	ENSP00000479094.1:p.Leu158Phe
ENST00000682565.1:c.22C>T	ENSP00000507671.1:p.Leu8Phe
ENST00000682675.1:n.432C>T
ENST00000682801.1:c.22C>T	ENSP00000507862.1:p.Leu8Phe
ENST00000682859.1:c.22C>T	ENSP00000508222.1:p.Leu8Phe
ENST00000682889.1:n.437C>T
ENST00000684148.1:n.218C>T
ENST00000684548.1:c.22C>T	ENSP00000507421.1:p.Leu8Phe