Canonical Allele Identifier: CA347270371

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73449040C>A , CM000664.2:g.73449040C>A	GRCh38
NC_000002.11:g.73676167C>A , CM000664.1:g.73676167C>A	GRCh37
NC_000002.10:g.73529675C>A	NCBI36
NG_011690.1:g.68288C>A , LRG_741:g.68288C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.2513C>A MANE Select	NP_001365383.1:p.Ser838Ter
ENST00000613296.6:c.2513C>A MANE Select	ENSP00000482968.1:p.Ser838Ter
NM_015120.4:c.2516C>A , LRG_741t1:c.2516C>A	NP_055935.4:p.Ser839Ter
ENST00000484298.5:c.2387C>A	ENSP00000478155.1:p.Ser796Ter
ENST00000613296.4:c.2513C>A	ENSP00000482968.1:p.Ser838Ter
ENST00000614410.4:c.2513C>A	ENSP00000479094.1:p.Ser838Ter
ENST00000682565.1:c.2132C>A	ENSP00000507671.1:p.Ser711Ter
ENST00000682801.1:c.2132C>A	ENSP00000507862.1:p.Ser711Ter
ENST00000682859.1:c.2132C>A	ENSP00000508222.1:p.Ser711Ter
ENST00000683791.1:c.685+16749C>A
ENST00000684548.1:c.2132C>A	ENSP00000507421.1:p.Ser711Ter