Canonical Allele Identifier: CA427001068

Gene: ALMS1

Linked Data

• dbSNP Id: rs747669538
• gnomAD v3: 2-73490140-C-T
• gnomAD v4: 2-73490140-C-T
• MyVariant Identifiers: chr2:g.73717267C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490140C>T , CM000664.2:g.73490140C>T	GRCh38
NC_000002.11:g.73717267C>T , CM000664.1:g.73717267C>T	GRCh37
NC_000002.10:g.73570775C>T	NCBI36
NG_011690.1:g.109388C>T , LRG_741:g.109388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7800C>T	ENSP00000507671.1:p.Ser2600=
ENST00000682801.1:c.7800C>T	ENSP00000507862.1:p.Ser2600=
ENST00000682859.1:c.7800C>T	ENSP00000508222.1:p.Ser2600=
ENST00000683791.1:c.1192C>T
ENST00000684460.1:c.5252C>T
ENST00000684548.1:c.7800C>T	ENSP00000507421.1:p.Ser2600=
ENST00000684590.1:c.2247C>T	ENSP00000507376.1:p.Ser749=
ENST00000684656.1:c.5252C>T
ENST00000613296.6:c.8181C>T MANE Select	ENSP00000482968.1:p.Ser2727=
ENST00000651434.1:c.896-29635C>T
ENST00000423048.5:c.3012C>T	ENSP00000399833.1:p.Ser1004=
ENST00000484298.5:c.8055C>T	ENSP00000478155.1:p.Ser2685=
ENST00000613296.4:c.8181C>T	ENSP00000482968.1:p.Ser2727=
ENST00000614410.4:c.8181C>T	ENSP00000479094.1:p.Ser2727=
ENST00000620466.4:n.1984C>T
NM_015120.4:c.8184C>T , LRG_741t1:c.8184C>T	NP_055935.4:p.Ser2728=
NM_001378454.1:c.8181C>T MANE Select	NP_001365383.1:p.Ser2727=