Canonical Allele Identifier: CA427019470

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448744T>G , CM000664.2:g.73448744T>G	GRCh38
NC_000002.11:g.73675871T>G , CM000664.1:g.73675871T>G	GRCh37
NC_000002.10:g.73529379T>G	NCBI36
NG_011690.1:g.67992T>G , LRG_741:g.67992T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.2217T>G MANE Select	NP_001365383.1:p.Thr739=
ENST00000613296.6:c.2217T>G MANE Select	ENSP00000482968.1:p.Thr739=
NM_015120.4:c.2220T>G , LRG_741t1:c.2220T>G	NP_055935.4:p.Thr740=
ENST00000484298.5:c.2091T>G	ENSP00000478155.1:p.Thr697=
ENST00000613296.4:c.2217T>G	ENSP00000482968.1:p.Thr739=
ENST00000614410.4:c.2217T>G	ENSP00000479094.1:p.Thr739=
ENST00000682565.1:c.1836T>G	ENSP00000507671.1:p.Thr612=
ENST00000682801.1:c.1836T>G	ENSP00000507862.1:p.Thr612=
ENST00000682859.1:c.1836T>G	ENSP00000508222.1:p.Thr612=
ENST00000683791.1:c.685+16453T>G
ENST00000684548.1:c.1836T>G	ENSP00000507421.1:p.Thr612=