Canonical Allele Identifier: CA347259227

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73419261C>T , CM000664.2:g.73419261C>T	GRCh38
NC_000002.11:g.73646389C>T , CM000664.1:g.73646389C>T	GRCh37
NC_000002.10:g.73499897C>T	NCBI36
NG_011690.1:g.38507C>T , LRG_741:g.38507C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.589C>T MANE Select	NP_001365383.1:p.Gln197Ter
ENST00000613296.6:c.589C>T MANE Select	ENSP00000482968.1:p.Gln197Ter
NM_015120.4:c.592C>T , LRG_741t1:c.592C>T	NP_055935.4:p.Gln198Ter
ENST00000484298.5:c.463C>T	ENSP00000478155.1:p.Gln155Ter
ENST00000613296.4:c.589C>T	ENSP00000482968.1:p.Gln197Ter
ENST00000614410.4:c.589C>T	ENSP00000479094.1:p.Gln197Ter
ENST00000682565.1:c.139C>T	ENSP00000507671.1:p.Gln47Ter
ENST00000682675.1:n.549C>T
ENST00000682801.1:c.139C>T	ENSP00000507862.1:p.Gln47Ter
ENST00000682859.1:c.139C>T	ENSP00000508222.1:p.Gln47Ter
ENST00000682889.1:n.554C>T
ENST00000684148.1:n.335C>T
ENST00000684548.1:c.139C>T	ENSP00000507421.1:p.Gln47Ter