Canonical Allele Identifier: CA1714074

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453033C>T , CM000664.2:g.73453033C>T	GRCh38
NC_000002.11:g.73680160C>T , CM000664.1:g.73680160C>T	GRCh37
NC_000002.10:g.73533668C>T	NCBI36
NG_011690.1:g.72281C>T , LRG_741:g.72281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.6125C>T	ENSP00000507671.1:p.Ser2042Leu
ENST00000682801.1:c.6125C>T	ENSP00000507862.1:p.Ser2042Leu
ENST00000682859.1:c.6125C>T	ENSP00000508222.1:p.Ser2042Leu
ENST00000683791.1:c.685+20742C>T
ENST00000684197.1:n.1475C>T
ENST00000684460.1:c.3577C>T
ENST00000684548.1:c.6125C>T	ENSP00000507421.1:p.Ser2042Leu
ENST00000684590.1:c.623C>T	ENSP00000507376.1:p.Ser208Leu
ENST00000684656.1:c.3577C>T
ENST00000613296.6:c.6506C>T MANE Select	ENSP00000482968.1:p.Ser2169Leu
ENST00000423048.5:c.1337C>T	ENSP00000399833.1:p.Ser446Leu
ENST00000484298.5:c.6380C>T	ENSP00000478155.1:p.Ser2127Leu
ENST00000613296.4:c.6506C>T	ENSP00000482968.1:p.Ser2169Leu
ENST00000614410.4:c.6506C>T	ENSP00000479094.1:p.Ser2169Leu
ENST00000620466.4:n.309C>T
NM_015120.4:c.6509C>T , LRG_741t1:c.6509C>T	NP_055935.4:p.Ser2170Leu
NM_001378454.1:c.6506C>T MANE Select	NP_001365383.1:p.Ser2169Leu