Canonical Allele Identifier: CA347266557

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448598C>T , CM000664.2:g.73448598C>T	GRCh38
NC_000002.11:g.73675725C>T , CM000664.1:g.73675725C>T	GRCh37
NC_000002.10:g.73529233C>T	NCBI36
NG_011690.1:g.67846C>T , LRG_741:g.67846C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.2071C>T MANE Select	NP_001365383.1:p.Gln691Ter
ENST00000613296.6:c.2071C>T MANE Select	ENSP00000482968.1:p.Gln691Ter
NM_015120.4:c.2074C>T , LRG_741t1:c.2074C>T	NP_055935.4:p.Gln692Ter
ENST00000484298.5:c.1945C>T	ENSP00000478155.1:p.Gln649Ter
ENST00000613296.4:c.2071C>T	ENSP00000482968.1:p.Gln691Ter
ENST00000614410.4:c.2071C>T	ENSP00000479094.1:p.Gln691Ter
ENST00000682565.1:c.1690C>T	ENSP00000507671.1:p.Gln564Ter
ENST00000682801.1:c.1690C>T	ENSP00000507862.1:p.Gln564Ter
ENST00000682859.1:c.1690C>T	ENSP00000508222.1:p.Gln564Ter
ENST00000683791.1:c.685+16307C>T
ENST00000684548.1:c.1690C>T	ENSP00000507421.1:p.Gln564Ter