Canonical Allele Identifier: CA347267797

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73490145-C-T
• MyVariant Identifiers: chr2:g.73717272C>T (hg19) ; chr2:g.73490145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490145C>T , CM000664.2:g.73490145C>T	GRCh38
NC_000002.11:g.73717272C>T , CM000664.1:g.73717272C>T	GRCh37
NC_000002.10:g.73570780C>T	NCBI36
NG_011690.1:g.109393C>T , LRG_741:g.109393C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7805C>T	ENSP00000507671.1:p.Ser2602Phe
ENST00000682801.1:c.7805C>T	ENSP00000507862.1:p.Ser2602Phe
ENST00000682859.1:c.7805C>T	ENSP00000508222.1:p.Ser2602Phe
ENST00000683791.1:c.1197C>T
ENST00000684460.1:c.5257C>T
ENST00000684548.1:c.7805C>T	ENSP00000507421.1:p.Ser2602Phe
ENST00000684590.1:c.2252C>T	ENSP00000507376.1:p.Ser751Phe
ENST00000684656.1:c.5257C>T
ENST00000613296.6:c.8186C>T MANE Select	ENSP00000482968.1:p.Ser2729Phe
ENST00000651434.1:c.896-29630C>T
ENST00000423048.5:c.3017C>T	ENSP00000399833.1:p.Ser1006Phe
ENST00000484298.5:c.8060C>T	ENSP00000478155.1:p.Ser2687Phe
ENST00000613296.4:c.8186C>T	ENSP00000482968.1:p.Ser2729Phe
ENST00000614410.4:c.8186C>T	ENSP00000479094.1:p.Ser2729Phe
ENST00000620466.4:n.1989C>T
NM_015120.4:c.8189C>T , LRG_741t1:c.8189C>T	NP_055935.4:p.Ser2730Phe
NM_001378454.1:c.8186C>T MANE Select	NP_001365383.1:p.Ser2729Phe