Canonical Allele Identifier: CA1713719

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451010C>G , CM000664.2:g.73451010C>G	GRCh38
NC_000002.11:g.73678137C>G , CM000664.1:g.73678137C>G	GRCh37
NC_000002.10:g.73531645C>G	NCBI36
NG_011690.1:g.70258C>G , LRG_741:g.70258C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.4483C>G MANE Select	NP_001365383.1:p.Leu1495Val
ENST00000613296.6:c.4483C>G MANE Select	ENSP00000482968.1:p.Leu1495Val
NM_015120.4:c.4486C>G , LRG_741t1:c.4486C>G	NP_055935.4:p.Leu1496Val
ENST00000484298.5:c.4357C>G	ENSP00000478155.1:p.Leu1453Val
ENST00000613296.4:c.4483C>G	ENSP00000482968.1:p.Leu1495Val
ENST00000614410.4:c.4483C>G	ENSP00000479094.1:p.Leu1495Val
ENST00000682565.1:c.4102C>G	ENSP00000507671.1:p.Leu1368Val
ENST00000682801.1:c.4102C>G	ENSP00000507862.1:p.Leu1368Val
ENST00000682859.1:c.4102C>G	ENSP00000508222.1:p.Leu1368Val
ENST00000683791.1:c.685+18719C>G
ENST00000684460.1:c.1554C>G
ENST00000684548.1:c.4102C>G	ENSP00000507421.1:p.Leu1368Val
ENST00000684656.1:c.1554C>G