Canonical Allele Identifier: CA347271981

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490924C>T , CM000664.2:g.73490924C>T	GRCh38
NC_000002.11:g.73718051C>T , CM000664.1:g.73718051C>T	GRCh37
NC_000002.10:g.73571559C>T	NCBI36
NG_011690.1:g.110172C>T , LRG_741:g.110172C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.8965C>T MANE Select	NP_001365383.1:p.Gln2989Ter
ENST00000613296.6:c.8965C>T MANE Select	ENSP00000482968.1:p.Gln2989Ter
NM_015120.4:c.8968C>T , LRG_741t1:c.8968C>T	NP_055935.4:p.Gln2990Ter
ENST00000423048.5:c.3030+766C>T	ENSP00000399833.1:n.3030+766C>T
ENST00000484298.5:c.8839C>T	ENSP00000478155.1:p.Gln2947Ter
ENST00000613296.4:c.8965C>T	ENSP00000482968.1:p.Gln2989Ter
ENST00000614410.4:c.8965C>T	ENSP00000479094.1:p.Gln2989Ter
ENST00000620466.4:n.2768C>T
ENST00000651434.1:c.896-28851C>T
ENST00000652487.1:c.62C>T
ENST00000682565.1:c.8584C>T	ENSP00000507671.1:p.Gln2862Ter
ENST00000682801.1:c.8584C>T	ENSP00000507862.1:p.Gln2862Ter
ENST00000682859.1:c.8584C>T	ENSP00000508222.1:p.Gln2862Ter
ENST00000683791.1:c.1976C>T
ENST00000684460.1:c.6036C>T
ENST00000684548.1:c.8584C>T	ENSP00000507421.1:p.Gln2862Ter
ENST00000684590.1:c.3031C>T	ENSP00000507376.1:p.Gln1011Ter
ENST00000684656.1:c.6036C>T