Canonical Allele Identifier: CA347281952

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451923C>G , CM000664.2:g.73451923C>G	GRCh38
NC_000002.11:g.73679050C>G , CM000664.1:g.73679050C>G	GRCh37
NC_000002.10:g.73532558C>G	NCBI36
NG_011690.1:g.71171C>G , LRG_741:g.71171C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5396C>G MANE Select	NP_001365383.1:p.Ser1799Ter
ENST00000613296.6:c.5396C>G MANE Select	ENSP00000482968.1:p.Ser1799Ter
NM_015120.4:c.5399C>G , LRG_741t1:c.5399C>G	NP_055935.4:p.Ser1800Ter
ENST00000423048.5:c.227C>G	ENSP00000399833.1:p.Ser76Ter
ENST00000484298.5:c.5270C>G	ENSP00000478155.1:p.Ser1757Ter
ENST00000613296.4:c.5396C>G	ENSP00000482968.1:p.Ser1799Ter
ENST00000614410.4:c.5396C>G	ENSP00000479094.1:p.Ser1799Ter
ENST00000682565.1:c.5015C>G	ENSP00000507671.1:p.Ser1672Ter
ENST00000682801.1:c.5015C>G	ENSP00000507862.1:p.Ser1672Ter
ENST00000682859.1:c.5015C>G	ENSP00000508222.1:p.Ser1672Ter
ENST00000683791.1:c.685+19632C>G
ENST00000684197.1:n.365C>G
ENST00000684460.1:c.2467C>G
ENST00000684548.1:c.5015C>G	ENSP00000507421.1:p.Ser1672Ter
ENST00000684656.1:c.2467C>G