Canonical Allele Identifier: CA347263016

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73599485C>T , CM000664.2:g.73599485C>T	GRCh38
NC_000002.11:g.73826612C>T , CM000664.1:g.73826612C>T	GRCh37
NC_000002.10:g.73680120C>T	NCBI36
NG_011690.1:g.218733C>T , LRG_741:g.218733C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11632C>T MANE Select	NP_001365383.1:p.Gln3878Ter
ENST00000613296.6:c.11632C>T MANE Select	ENSP00000482968.1:p.Gln3878Ter
NM_015120.4:c.11635C>T , LRG_741t1:c.11635C>T	NP_055935.4:p.Gln3879Ter
ENST00000484298.5:c.11506C>T	ENSP00000478155.1:p.Gln3836Ter
ENST00000613296.4:c.11632C>T	ENSP00000482968.1:p.Gln3878Ter
ENST00000620466.4:n.5435C>T
ENST00000651057.1:c.1786C>T	ENSP00000498504.1:p.Gln596Ter
ENST00000651434.1:c.2988C>T
ENST00000651750.1:c.1020C>T
ENST00000652487.1:c.2803C>T
ENST00000682565.1:c.11251C>T	ENSP00000507671.1:p.Gln3751Ter
ENST00000682801.1:c.11167-2700C>T	ENSP00000507862.1:n.11167-2700C>T
ENST00000682859.1:c.11251C>T	ENSP00000508222.1:p.Gln3751Ter
ENST00000683791.1:c.4337C>T
ENST00000684460.1:c.8532C>T
ENST00000684548.1:c.11251C>T	ENSP00000507421.1:p.Gln3751Ter
ENST00000684590.1:c.5698C>T	ENSP00000507376.1:p.Gln1900Ter
ENST00000684656.1:c.8716C>T