Canonical Allele Identifier: CA1713878

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451944A>C , CM000664.2:g.73451944A>C	GRCh38
NC_000002.11:g.73679071A>C , CM000664.1:g.73679071A>C	GRCh37
NC_000002.10:g.73532579A>C	NCBI36
NG_011690.1:g.71192A>C , LRG_741:g.71192A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5417A>C MANE Select	NP_001365383.1:p.Tyr1806Ser
ENST00000613296.6:c.5417A>C MANE Select	ENSP00000482968.1:p.Tyr1806Ser
NM_015120.4:c.5420A>C , LRG_741t1:c.5420A>C	NP_055935.4:p.Tyr1807Ser
ENST00000423048.5:c.248A>C	ENSP00000399833.1:p.Tyr83Ser
ENST00000484298.5:c.5291A>C	ENSP00000478155.1:p.Tyr1764Ser
ENST00000613296.4:c.5417A>C	ENSP00000482968.1:p.Tyr1806Ser
ENST00000614410.4:c.5417A>C	ENSP00000479094.1:p.Tyr1806Ser
ENST00000682565.1:c.5036A>C	ENSP00000507671.1:p.Tyr1679Ser
ENST00000682801.1:c.5036A>C	ENSP00000507862.1:p.Tyr1679Ser
ENST00000682859.1:c.5036A>C	ENSP00000508222.1:p.Tyr1679Ser
ENST00000683791.1:c.685+19653A>C
ENST00000684197.1:n.386A>C
ENST00000684460.1:c.2488A>C
ENST00000684548.1:c.5036A>C	ENSP00000507421.1:p.Tyr1679Ser
ENST00000684656.1:c.2488A>C