Canonical Allele Identifier: CA1713933

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452292T>C , CM000664.2:g.73452292T>C	GRCh38
NC_000002.11:g.73679419T>C , CM000664.1:g.73679419T>C	GRCh37
NC_000002.10:g.73532927T>C	NCBI36
NG_011690.1:g.71540T>C , LRG_741:g.71540T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5765T>C MANE Select	NP_001365383.1:p.Val1922Ala
ENST00000613296.6:c.5765T>C MANE Select	ENSP00000482968.1:p.Val1922Ala
NM_015120.4:c.5768T>C , LRG_741t1:c.5768T>C	NP_055935.4:p.Val1923Ala
ENST00000423048.5:c.596T>C	ENSP00000399833.1:p.Val199Ala
ENST00000484298.5:c.5639T>C	ENSP00000478155.1:p.Val1880Ala
ENST00000613296.4:c.5765T>C	ENSP00000482968.1:p.Val1922Ala
ENST00000614410.4:c.5765T>C	ENSP00000479094.1:p.Val1922Ala
ENST00000682565.1:c.5384T>C	ENSP00000507671.1:p.Val1795Ala
ENST00000682801.1:c.5384T>C	ENSP00000507862.1:p.Val1795Ala
ENST00000682859.1:c.5384T>C	ENSP00000508222.1:p.Val1795Ala
ENST00000683791.1:c.685+20001T>C
ENST00000684197.1:n.734T>C
ENST00000684460.1:c.2836T>C
ENST00000684548.1:c.5384T>C	ENSP00000507421.1:p.Val1795Ala
ENST00000684656.1:c.2836T>C