Canonical Allele Identifier: CA1714724

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519872C>G , CM000664.2:g.73519872C>G	GRCh38
NC_000002.11:g.73746999C>G , CM000664.1:g.73746999C>G	GRCh37
NC_000002.10:g.73600507C>G	NCBI36
NG_011690.1:g.139120C>G , LRG_741:g.139120C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9637C>G MANE Select	NP_001365383.1:p.Leu3213Val
ENST00000613296.6:c.9637C>G MANE Select	ENSP00000482968.1:p.Leu3213Val
NM_015120.4:c.9640C>G , LRG_741t1:c.9640C>G	NP_055935.4:p.Leu3214Val
ENST00000423048.5:c.3128C>G	ENSP00000399833.1:n.3128C>G
ENST00000484298.5:c.9511C>G	ENSP00000478155.1:p.Leu3171Val
ENST00000613296.4:c.9637C>G	ENSP00000482968.1:p.Leu3213Val
ENST00000614410.4:c.9637C>G	ENSP00000479094.1:p.Leu3213Val
ENST00000620466.4:n.3440C>G
ENST00000651434.1:c.993C>G
ENST00000652487.1:c.734C>G
ENST00000682565.1:c.9256C>G	ENSP00000507671.1:p.Leu3086Val
ENST00000682801.1:c.9256C>G	ENSP00000507862.1:p.Leu3086Val
ENST00000682859.1:c.9256C>G	ENSP00000508222.1:p.Leu3086Val
ENST00000683791.1:c.2648C>G
ENST00000684460.1:c.6708C>G
ENST00000684548.1:c.9256C>G	ENSP00000507421.1:p.Leu3086Val
ENST00000684590.1:c.3703C>G	ENSP00000507376.1:p.Leu1235Val
ENST00000684656.1:c.6708C>G