Canonical Allele Identifier: CA347280518

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451766C>T , CM000664.2:g.73451766C>T	GRCh38
NC_000002.11:g.73678893C>T , CM000664.1:g.73678893C>T	GRCh37
NC_000002.10:g.73532401C>T	NCBI36
NG_011690.1:g.71014C>T , LRG_741:g.71014C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5239C>T MANE Select	NP_001365383.1:p.Gln1747Ter
ENST00000613296.6:c.5239C>T MANE Select	ENSP00000482968.1:p.Gln1747Ter
NM_015120.4:c.5242C>T , LRG_741t1:c.5242C>T	NP_055935.4:p.Gln1748Ter
ENST00000423048.5:c.70C>T	ENSP00000399833.1:p.Gln24Ter
ENST00000484298.5:c.5113C>T	ENSP00000478155.1:p.Gln1705Ter
ENST00000613296.4:c.5239C>T	ENSP00000482968.1:p.Gln1747Ter
ENST00000614410.4:c.5239C>T	ENSP00000479094.1:p.Gln1747Ter
ENST00000682565.1:c.4858C>T	ENSP00000507671.1:p.Gln1620Ter
ENST00000682801.1:c.4858C>T	ENSP00000507862.1:p.Gln1620Ter
ENST00000682859.1:c.4858C>T	ENSP00000508222.1:p.Gln1620Ter
ENST00000683791.1:c.685+19475C>T
ENST00000684197.1:n.208C>T
ENST00000684460.1:c.2310C>T
ENST00000684548.1:c.4858C>T	ENSP00000507421.1:p.Gln1620Ter
ENST00000684656.1:c.2310C>T