Canonical Allele Identifier: CA347265862

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601269-C-T
• MyVariant Identifiers: chr2:g.73828396C>T (hg19) ; chr2:g.73601269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601269C>T , CM000664.2:g.73601269C>T	GRCh38
NC_000002.11:g.73828396C>T , CM000664.1:g.73828396C>T	GRCh37
NC_000002.10:g.73681904C>T	NCBI36
NG_011690.1:g.220517C>T , LRG_741:g.220517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11566C>T	ENSP00000507671.1:p.Pro3856Ser
ENST00000682801.1:c.11167-916C>T	ENSP00000507862.1:n.11167-916C>T
ENST00000682859.1:c.11566C>T	ENSP00000508222.1:p.Pro3856Ser
ENST00000683791.1:c.4652C>T
ENST00000684460.1:c.8847C>T
ENST00000684548.1:c.11566C>T	ENSP00000507421.1:p.Pro3856Ser
ENST00000684590.1:c.6013C>T	ENSP00000507376.1:p.Pro2005Ser
ENST00000684656.1:c.9031C>T
ENST00000613296.6:c.11947C>T MANE Select	ENSP00000482968.1:p.Pro3983Ser
ENST00000651057.1:c.2101C>T	ENSP00000498504.1:p.Pro701Ser
ENST00000651434.1:c.3303C>T
ENST00000651750.1:c.1260+388C>T
ENST00000652487.1:c.3118C>T
ENST00000464408.3:n.122C>T
ENST00000484298.5:c.11821C>T	ENSP00000478155.1:p.Pro3941Ser
ENST00000613296.4:c.11947C>T	ENSP00000482968.1:p.Pro3983Ser
ENST00000620466.4:n.5750C>T
NM_015120.4:c.11950C>T , LRG_741t1:c.11950C>T	NP_055935.4:p.Pro3984Ser
NM_001378454.1:c.11947C>T MANE Select	NP_001365383.1:p.Pro3983Ser