Canonical Allele Identifier: CA347278008

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73559046A>T , CM000664.2:g.73559046A>T	GRCh38
NC_000002.11:g.73786173A>T , CM000664.1:g.73786173A>T	GRCh37
NC_000002.10:g.73639681A>T	NCBI36
NG_011690.1:g.178294A>T , LRG_741:g.178294A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.10288A>T MANE Select	NP_001365383.1:p.Lys3430Ter
ENST00000613296.6:c.10288A>T MANE Select	ENSP00000482968.1:p.Lys3430Ter
NM_015120.4:c.10291A>T , LRG_741t1:c.10291A>T	NP_055935.4:p.Lys3431Ter
ENST00000423048.5:c.3779A>T	ENSP00000399833.1:n.3779A>T
ENST00000484298.5:c.10162A>T	ENSP00000478155.1:p.Lys3388Ter
ENST00000613296.4:c.10288A>T	ENSP00000482968.1:p.Lys3430Ter
ENST00000614410.4:c.10288A>T	ENSP00000479094.1:p.Lys3430Ter
ENST00000620466.4:n.4091A>T
ENST00000651057.1:c.442A>T	ENSP00000498504.1:p.Lys148Ter
ENST00000651434.1:c.1644A>T
ENST00000652487.1:c.1385A>T
ENST00000682565.1:c.9907A>T	ENSP00000507671.1:p.Lys3303Ter
ENST00000682801.1:c.9907A>T	ENSP00000507862.1:p.Lys3303Ter
ENST00000682859.1:c.9907A>T	ENSP00000508222.1:p.Lys3303Ter
ENST00000683791.1:c.3089+8609A>T
ENST00000684460.1:c.7188A>T
ENST00000684548.1:c.9907A>T	ENSP00000507421.1:p.Lys3303Ter
ENST00000684590.1:c.4354A>T	ENSP00000507376.1:p.Lys1452Ter
ENST00000684656.1:c.7233A>T