Canonical Allele Identifier: CA347264249

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73600716C>T , CM000664.2:g.73600716C>T	GRCh38
NC_000002.11:g.73827843C>T , CM000664.1:g.73827843C>T	GRCh37
NC_000002.10:g.73681351C>T	NCBI36
NG_011690.1:g.219964C>T , LRG_741:g.219964C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11707C>T MANE Select	NP_001365383.1:p.Arg3903Ter
ENST00000613296.6:c.11707C>T MANE Select	ENSP00000482968.1:p.Arg3903Ter
NM_015120.4:c.11710C>T , LRG_741t1:c.11710C>T	NP_055935.4:p.Arg3904Ter
ENST00000484298.5:c.11581C>T	ENSP00000478155.1:p.Arg3861Ter
ENST00000613296.4:c.11707C>T	ENSP00000482968.1:p.Arg3903Ter
ENST00000620466.4:n.5510C>T
ENST00000651057.1:c.1861C>T	ENSP00000498504.1:p.Arg621Ter
ENST00000651434.1:c.3063C>T
ENST00000651750.1:c.1095C>T
ENST00000652487.1:c.2878C>T
ENST00000682565.1:c.11326C>T	ENSP00000507671.1:p.Arg3776Ter
ENST00000682801.1:c.11167-1469C>T	ENSP00000507862.1:n.11167-1469C>T
ENST00000682859.1:c.11326C>T	ENSP00000508222.1:p.Arg3776Ter
ENST00000683791.1:c.4412C>T
ENST00000684460.1:c.8607C>T
ENST00000684548.1:c.11326C>T	ENSP00000507421.1:p.Arg3776Ter
ENST00000684590.1:c.5773C>T	ENSP00000507376.1:p.Arg1925Ter
ENST00000684656.1:c.8791C>T