Canonical Allele Identifier: CA347268904

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490403C>G , CM000664.2:g.73490403C>G	GRCh38
NC_000002.11:g.73717530C>G , CM000664.1:g.73717530C>G	GRCh37
NC_000002.10:g.73571038C>G	NCBI36
NG_011690.1:g.109651C>G , LRG_741:g.109651C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8444C>G MANE Select	NP_001365383.1:p.Ser2815Ter
ENST00000613296.6:c.8444C>G MANE Select	ENSP00000482968.1:p.Ser2815Ter
NM_015120.4:c.8447C>G , LRG_741t1:c.8447C>G	NP_055935.4:p.Ser2816Ter
ENST00000423048.5:c.3030+245C>G	ENSP00000399833.1:n.3030+245C>G
ENST00000484298.5:c.8318C>G	ENSP00000478155.1:p.Ser2773Ter
ENST00000613296.4:c.8444C>G	ENSP00000482968.1:p.Ser2815Ter
ENST00000614410.4:c.8444C>G	ENSP00000479094.1:p.Ser2815Ter
ENST00000620466.4:n.2247C>G
ENST00000651434.1:c.896-29372C>G
ENST00000682565.1:c.8063C>G	ENSP00000507671.1:p.Ser2688Ter
ENST00000682801.1:c.8063C>G	ENSP00000507862.1:p.Ser2688Ter
ENST00000682859.1:c.8063C>G	ENSP00000508222.1:p.Ser2688Ter
ENST00000683791.1:c.1455C>G
ENST00000684460.1:c.5515C>G
ENST00000684548.1:c.8063C>G	ENSP00000507421.1:p.Ser2688Ter
ENST00000684590.1:c.2510C>G	ENSP00000507376.1:p.Ser837Ter
ENST00000684656.1:c.5515C>G