Canonical Allele Identifier: CA347290809

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453594C>A , CM000664.2:g.73453594C>A	GRCh38
NC_000002.11:g.73680721C>A , CM000664.1:g.73680721C>A	GRCh37
NC_000002.10:g.73534229C>A	NCBI36
NG_011690.1:g.72842C>A , LRG_741:g.72842C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7067C>A MANE Select	NP_001365383.1:p.Ser2356Ter
ENST00000613296.6:c.7067C>A MANE Select	ENSP00000482968.1:p.Ser2356Ter
NM_015120.4:c.7070C>A , LRG_741t1:c.7070C>A	NP_055935.4:p.Ser2357Ter
ENST00000423048.5:c.1898C>A	ENSP00000399833.1:p.Ser633Ter
ENST00000484298.5:c.6941C>A	ENSP00000478155.1:p.Ser2314Ter
ENST00000613296.4:c.7067C>A	ENSP00000482968.1:p.Ser2356Ter
ENST00000614410.4:c.7067C>A	ENSP00000479094.1:p.Ser2356Ter
ENST00000620466.4:n.870C>A
ENST00000651434.1:c.288C>A
ENST00000682565.1:c.6686C>A	ENSP00000507671.1:p.Ser2229Ter
ENST00000682801.1:c.6686C>A	ENSP00000507862.1:p.Ser2229Ter
ENST00000682859.1:c.6686C>A	ENSP00000508222.1:p.Ser2229Ter
ENST00000683791.1:c.685+21303C>A
ENST00000684197.1:n.2036C>A
ENST00000684460.1:c.4138C>A
ENST00000684548.1:c.6686C>A	ENSP00000507421.1:p.Ser2229Ter
ENST00000684590.1:c.1184C>A	ENSP00000507376.1:p.Ser395Ter
ENST00000684656.1:c.4138C>A