Canonical Allele Identifier: CA1715121

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572981C>T , CM000664.2:g.73572981C>T	GRCh38
NC_000002.11:g.73800108C>T , CM000664.1:g.73800108C>T	GRCh37
NC_000002.10:g.73653616C>T	NCBI36
NG_011690.1:g.192229C>T , LRG_741:g.192229C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11104C>T MANE Select	NP_001365383.1:p.Arg3702Ter
ENST00000613296.6:c.11104C>T MANE Select	ENSP00000482968.1:p.Arg3702Ter
NM_015120.4:c.11107C>T , LRG_741t1:c.11107C>T	NP_055935.4:p.Arg3703Ter
ENST00000423048.5:c.4595C>T	ENSP00000399833.1:n.4595C>T
ENST00000484298.5:c.10978C>T	ENSP00000478155.1:p.Arg3660Ter
ENST00000613296.4:c.11104C>T	ENSP00000482968.1:p.Arg3702Ter
ENST00000614410.4:c.11104C>T	ENSP00000479094.1:p.Arg3702Ter
ENST00000620466.4:n.4907C>T
ENST00000651057.1:c.1258C>T	ENSP00000498504.1:p.Arg420Ter
ENST00000651434.1:c.2460C>T
ENST00000651750.1:c.492C>T
ENST00000652487.1:c.2201C>T
ENST00000682565.1:c.10723C>T	ENSP00000507671.1:p.Arg3575Ter
ENST00000682801.1:c.10723C>T	ENSP00000507862.1:p.Arg3575Ter
ENST00000682859.1:c.10723C>T	ENSP00000508222.1:p.Arg3575Ter
ENST00000683791.1:c.3809C>T
ENST00000684460.1:c.8004C>T
ENST00000684548.1:c.10723C>T	ENSP00000507421.1:p.Arg3575Ter
ENST00000684590.1:c.5170C>T	ENSP00000507376.1:p.Arg1724Ter
ENST00000684656.1:c.8049C>T