Canonical Allele Identifier: CA347291204

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453659C>T , CM000664.2:g.73453659C>T	GRCh38
NC_000002.11:g.73680786C>T , CM000664.1:g.73680786C>T	GRCh37
NC_000002.10:g.73534294C>T	NCBI36
NG_011690.1:g.72907C>T , LRG_741:g.72907C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7132C>T MANE Select	NP_001365383.1:p.Leu2378Phe
ENST00000613296.6:c.7132C>T MANE Select	ENSP00000482968.1:p.Leu2378Phe
NM_015120.4:c.7135C>T , LRG_741t1:c.7135C>T	NP_055935.4:p.Leu2379Phe
ENST00000423048.5:c.1963C>T	ENSP00000399833.1:p.Leu655Phe
ENST00000484298.5:c.7006C>T	ENSP00000478155.1:p.Leu2336Phe
ENST00000613296.4:c.7132C>T	ENSP00000482968.1:p.Leu2378Phe
ENST00000614410.4:c.7132C>T	ENSP00000479094.1:p.Leu2378Phe
ENST00000620466.4:n.935C>T
ENST00000651434.1:c.353C>T
ENST00000682565.1:c.6751C>T	ENSP00000507671.1:p.Leu2251Phe
ENST00000682801.1:c.6751C>T	ENSP00000507862.1:p.Leu2251Phe
ENST00000682859.1:c.6751C>T	ENSP00000508222.1:p.Leu2251Phe
ENST00000683791.1:c.685+21368C>T
ENST00000684197.1:n.2101C>T
ENST00000684460.1:c.4203C>T
ENST00000684548.1:c.6751C>T	ENSP00000507421.1:p.Leu2251Phe
ENST00000684590.1:c.1249C>T	ENSP00000507376.1:p.Leu417Phe
ENST00000684656.1:c.4203C>T