Canonical Allele Identifier: CA50397708

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73519842C>T , CM000664.2:g.73519842C>T	GRCh38
NC_000002.11:g.73746969C>T , CM000664.1:g.73746969C>T	GRCh37
NC_000002.10:g.73600477C>T	NCBI36
NG_011690.1:g.139090C>T , LRG_741:g.139090C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9607C>T MANE Select	NP_001365383.1:p.Gln3203Ter
ENST00000613296.6:c.9607C>T MANE Select	ENSP00000482968.1:p.Gln3203Ter
NM_015120.4:c.9610C>T , LRG_741t1:c.9610C>T	NP_055935.4:p.Gln3204Ter
ENST00000423048.5:c.3098C>T	ENSP00000399833.1:n.3098C>T
ENST00000484298.5:c.9481C>T	ENSP00000478155.1:p.Gln3161Ter
ENST00000613296.4:c.9607C>T	ENSP00000482968.1:p.Gln3203Ter
ENST00000614410.4:c.9607C>T	ENSP00000479094.1:p.Gln3203Ter
ENST00000620466.4:n.3410C>T
ENST00000651434.1:c.963C>T
ENST00000652487.1:c.704C>T
ENST00000682565.1:c.9226C>T	ENSP00000507671.1:p.Gln3076Ter
ENST00000682801.1:c.9226C>T	ENSP00000507862.1:p.Gln3076Ter
ENST00000682859.1:c.9226C>T	ENSP00000508222.1:p.Gln3076Ter
ENST00000683791.1:c.2618C>T
ENST00000684460.1:c.6678C>T
ENST00000684548.1:c.9226C>T	ENSP00000507421.1:p.Gln3076Ter
ENST00000684590.1:c.3673C>T	ENSP00000507376.1:p.Gln1225Ter
ENST00000684656.1:c.6678C>T