Canonical Allele Identifier: CA347287494

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73573014C>T , CM000664.2:g.73573014C>T	GRCh38
NC_000002.11:g.73800141C>T , CM000664.1:g.73800141C>T	GRCh37
NC_000002.10:g.73653649C>T	NCBI36
NG_011690.1:g.192262C>T , LRG_741:g.192262C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11137C>T MANE Select	NP_001365383.1:p.Gln3713Ter
ENST00000613296.6:c.11137C>T MANE Select	ENSP00000482968.1:p.Gln3713Ter
NM_015120.4:c.11140C>T , LRG_741t1:c.11140C>T	NP_055935.4:p.Gln3714Ter
ENST00000423048.5:c.4628C>T	ENSP00000399833.1:n.4628C>T
ENST00000484298.5:c.11011C>T	ENSP00000478155.1:p.Gln3671Ter
ENST00000613296.4:c.11137C>T	ENSP00000482968.1:p.Gln3713Ter
ENST00000614410.4:c.11137C>T	ENSP00000479094.1:p.Gln3713Ter
ENST00000620466.4:n.4940C>T
ENST00000651057.1:c.1291C>T	ENSP00000498504.1:p.Gln431Ter
ENST00000651434.1:c.2493C>T
ENST00000651750.1:c.525C>T
ENST00000652487.1:c.2234C>T
ENST00000682565.1:c.10756C>T	ENSP00000507671.1:p.Gln3586Ter
ENST00000682801.1:c.10756C>T	ENSP00000507862.1:p.Gln3586Ter
ENST00000682859.1:c.10756C>T	ENSP00000508222.1:p.Gln3586Ter
ENST00000683791.1:c.3842C>T
ENST00000684460.1:c.8037C>T
ENST00000684548.1:c.10756C>T	ENSP00000507421.1:p.Gln3586Ter
ENST00000684590.1:c.5203C>T	ENSP00000507376.1:p.Gln1735Ter
ENST00000684656.1:c.8082C>T