Canonical Allele Identifier: CA347281057

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451877A>T , CM000664.2:g.73451877A>T	GRCh38
NC_000002.11:g.73679004A>T , CM000664.1:g.73679004A>T	GRCh37
NC_000002.10:g.73532512A>T	NCBI36
NG_011690.1:g.71125A>T , LRG_741:g.71125A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5350A>T MANE Select	NP_001365383.1:p.Lys1784Ter
ENST00000613296.6:c.5350A>T MANE Select	ENSP00000482968.1:p.Lys1784Ter
NM_015120.4:c.5353A>T , LRG_741t1:c.5353A>T	NP_055935.4:p.Lys1785Ter
ENST00000423048.5:c.181A>T	ENSP00000399833.1:p.Lys61Ter
ENST00000484298.5:c.5224A>T	ENSP00000478155.1:p.Lys1742Ter
ENST00000613296.4:c.5350A>T	ENSP00000482968.1:p.Lys1784Ter
ENST00000614410.4:c.5350A>T	ENSP00000479094.1:p.Lys1784Ter
ENST00000682565.1:c.4969A>T	ENSP00000507671.1:p.Lys1657Ter
ENST00000682801.1:c.4969A>T	ENSP00000507862.1:p.Lys1657Ter
ENST00000682859.1:c.4969A>T	ENSP00000508222.1:p.Lys1657Ter
ENST00000683791.1:c.685+19586A>T
ENST00000684197.1:n.319A>T
ENST00000684460.1:c.2421A>T
ENST00000684548.1:c.4969A>T	ENSP00000507421.1:p.Lys1657Ter
ENST00000684656.1:c.2421A>T