Canonical Allele Identifier: CA347276046

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73677273C>T (hg19) ; chr2:g.73450146C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450146C>T , CM000664.2:g.73450146C>T	GRCh38
NC_000002.11:g.73677273C>T , CM000664.1:g.73677273C>T	GRCh37
NC_000002.10:g.73530781C>T	NCBI36
NG_011690.1:g.69394C>T , LRG_741:g.69394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3238C>T	ENSP00000507671.1:p.Pro1080Ser
ENST00000682801.1:c.3238C>T	ENSP00000507862.1:p.Pro1080Ser
ENST00000682859.1:c.3238C>T	ENSP00000508222.1:p.Pro1080Ser
ENST00000683791.1:c.685+17855C>T
ENST00000684460.1:c.690C>T
ENST00000684548.1:c.3238C>T	ENSP00000507421.1:p.Pro1080Ser
ENST00000684656.1:c.690C>T
ENST00000613296.6:c.3619C>T MANE Select	ENSP00000482968.1:p.Pro1207Ser
ENST00000484298.5:c.3493C>T	ENSP00000478155.1:p.Pro1165Ser
ENST00000613296.4:c.3619C>T	ENSP00000482968.1:p.Pro1207Ser
ENST00000614410.4:c.3619C>T	ENSP00000479094.1:p.Pro1207Ser
NM_015120.4:c.3622C>T , LRG_741t1:c.3622C>T	NP_055935.4:p.Pro1208Ser
NM_001378454.1:c.3619C>T MANE Select	NP_001365383.1:p.Pro1207Ser