Canonical Allele Identifier: CA347273627

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73491185A>T , CM000664.2:g.73491185A>T	GRCh38
NC_000002.11:g.73718312A>T , CM000664.1:g.73718312A>T	GRCh37
NC_000002.10:g.73571820A>T	NCBI36
NG_011690.1:g.110433A>T , LRG_741:g.110433A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9226A>T MANE Select	NP_001365383.1:p.Lys3076Ter
ENST00000613296.6:c.9226A>T MANE Select	ENSP00000482968.1:p.Lys3076Ter
NM_015120.4:c.9229A>T , LRG_741t1:c.9229A>T	NP_055935.4:p.Lys3077Ter
ENST00000423048.5:c.3030+1027A>T	ENSP00000399833.1:n.3030+1027A>T
ENST00000484298.5:c.9100A>T	ENSP00000478155.1:p.Lys3034Ter
ENST00000613296.4:c.9226A>T	ENSP00000482968.1:p.Lys3076Ter
ENST00000614410.4:c.9226A>T	ENSP00000479094.1:p.Lys3076Ter
ENST00000620466.4:n.3029A>T
ENST00000651434.1:c.896-28590A>T
ENST00000652487.1:c.323A>T
ENST00000682565.1:c.8845A>T	ENSP00000507671.1:p.Lys2949Ter
ENST00000682801.1:c.8845A>T	ENSP00000507862.1:p.Lys2949Ter
ENST00000682859.1:c.8845A>T	ENSP00000508222.1:p.Lys2949Ter
ENST00000683791.1:c.2237A>T
ENST00000684460.1:c.6297A>T
ENST00000684548.1:c.8845A>T	ENSP00000507421.1:p.Lys2949Ter
ENST00000684590.1:c.3292A>T	ENSP00000507376.1:p.Lys1098Ter
ENST00000684656.1:c.6297A>T