Canonical Allele Identifier: CA1713232

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448383C>T , CM000664.2:g.73448383C>T	GRCh38
NC_000002.11:g.73675510C>T , CM000664.1:g.73675510C>T	GRCh37
NC_000002.10:g.73529018C>T	NCBI36
NG_011690.1:g.67631C>T , LRG_741:g.67631C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.1856C>T MANE Select	NP_001365383.1:p.Ser619Phe
ENST00000613296.6:c.1856C>T MANE Select	ENSP00000482968.1:p.Ser619Phe
NM_015120.4:c.1859C>T , LRG_741t1:c.1859C>T	NP_055935.4:p.Ser620Phe
ENST00000484298.5:c.1730C>T	ENSP00000478155.1:p.Ser577Phe
ENST00000613296.4:c.1856C>T	ENSP00000482968.1:p.Ser619Phe
ENST00000614410.4:c.1856C>T	ENSP00000479094.1:p.Ser619Phe
ENST00000682565.1:c.1475C>T	ENSP00000507671.1:p.Ser492Phe
ENST00000682801.1:c.1475C>T	ENSP00000507862.1:p.Ser492Phe
ENST00000682859.1:c.1475C>T	ENSP00000508222.1:p.Ser492Phe
ENST00000683791.1:c.685+16092C>T
ENST00000684548.1:c.1475C>T	ENSP00000507421.1:p.Ser492Phe