Canonical Allele Identifier: CA347264958

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448152T>A , CM000664.2:g.73448152T>A	GRCh38
NC_000002.11:g.73675279T>A , CM000664.1:g.73675279T>A	GRCh37
NC_000002.10:g.73528787T>A	NCBI36
NG_011690.1:g.67400T>A , LRG_741:g.67400T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1625T>A MANE Select	NP_001365383.1:p.Leu542Ter
ENST00000613296.6:c.1625T>A MANE Select	ENSP00000482968.1:p.Leu542Ter
NM_015120.4:c.1628T>A , LRG_741t1:c.1628T>A	NP_055935.4:p.Leu543Ter
ENST00000484298.5:c.1499T>A	ENSP00000478155.1:p.Leu500Ter
ENST00000613296.4:c.1625T>A	ENSP00000482968.1:p.Leu542Ter
ENST00000614410.4:c.1625T>A	ENSP00000479094.1:p.Leu542Ter
ENST00000682565.1:c.1244T>A	ENSP00000507671.1:p.Leu415Ter
ENST00000682801.1:c.1244T>A	ENSP00000507862.1:p.Leu415Ter
ENST00000682859.1:c.1244T>A	ENSP00000508222.1:p.Leu415Ter
ENST00000683791.1:c.685+15861T>A
ENST00000684548.1:c.1244T>A	ENSP00000507421.1:p.Leu415Ter