Canonical Allele Identifier: CA347289345

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73573251C>T , CM000664.2:g.73573251C>T	GRCh38
NC_000002.11:g.73800378C>T , CM000664.1:g.73800378C>T	GRCh37
NC_000002.10:g.73653886C>T	NCBI36
NG_011690.1:g.192499C>T , LRG_741:g.192499C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11374C>T MANE Select	NP_001365383.1:p.Gln3792Ter
ENST00000613296.6:c.11374C>T MANE Select	ENSP00000482968.1:p.Gln3792Ter
NM_015120.4:c.11377C>T , LRG_741t1:c.11377C>T	NP_055935.4:p.Gln3793Ter
ENST00000423048.5:c.4865C>T	ENSP00000399833.1:n.4865C>T
ENST00000484298.5:c.11248C>T	ENSP00000478155.1:p.Gln3750Ter
ENST00000613296.4:c.11374C>T	ENSP00000482968.1:p.Gln3792Ter
ENST00000614410.4:c.11374C>T	ENSP00000479094.1:p.Gln3792Ter
ENST00000620466.4:n.5177C>T
ENST00000651057.1:c.1528C>T	ENSP00000498504.1:p.Gln510Ter
ENST00000651434.1:c.2730C>T
ENST00000651750.1:c.762C>T
ENST00000652487.1:c.2471C>T
ENST00000682565.1:c.10993C>T	ENSP00000507671.1:p.Gln3665Ter
ENST00000682801.1:c.10993C>T	ENSP00000507862.1:p.Gln3665Ter
ENST00000682859.1:c.10993C>T	ENSP00000508222.1:p.Gln3665Ter
ENST00000683791.1:c.4079C>T
ENST00000684460.1:c.8274C>T
ENST00000684548.1:c.10993C>T	ENSP00000507421.1:p.Gln3665Ter
ENST00000684590.1:c.5440C>T	ENSP00000507376.1:p.Gln1814Ter
ENST00000684656.1:c.8319C>T