Canonical Allele Identifier: CA347292388

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453926G>T , CM000664.2:g.73453926G>T	GRCh38
NC_000002.11:g.73681053G>T , CM000664.1:g.73681053G>T	GRCh37
NC_000002.10:g.73534561G>T	NCBI36
NG_011690.1:g.73174G>T , LRG_741:g.73174G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7399G>T MANE Select	NP_001365383.1:p.Glu2467Ter
ENST00000613296.6:c.7399G>T MANE Select	ENSP00000482968.1:p.Glu2467Ter
NM_015120.4:c.7402G>T , LRG_741t1:c.7402G>T	NP_055935.4:p.Glu2468Ter
ENST00000423048.5:c.2230G>T	ENSP00000399833.1:p.Glu744Ter
ENST00000484298.5:c.7273G>T	ENSP00000478155.1:p.Glu2425Ter
ENST00000613296.4:c.7399G>T	ENSP00000482968.1:p.Glu2467Ter
ENST00000614410.4:c.7399G>T	ENSP00000479094.1:p.Glu2467Ter
ENST00000620466.4:n.1202G>T
ENST00000651434.1:c.620G>T
ENST00000682565.1:c.7018G>T	ENSP00000507671.1:p.Glu2340Ter
ENST00000682801.1:c.7018G>T	ENSP00000507862.1:p.Glu2340Ter
ENST00000682859.1:c.7018G>T	ENSP00000508222.1:p.Glu2340Ter
ENST00000683791.1:c.685+21635G>T
ENST00000684197.1:n.2368G>T
ENST00000684460.1:c.4470G>T
ENST00000684548.1:c.7018G>T	ENSP00000507421.1:p.Glu2340Ter
ENST00000684590.1:c.1516G>T	ENSP00000507376.1:p.Glu506Ter
ENST00000684656.1:c.4470G>T