Canonical Allele Identifier: CA347286818

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800009C>T (hg19) ; chr2:g.73572882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572882C>T , CM000664.2:g.73572882C>T	GRCh38
NC_000002.11:g.73800009C>T , CM000664.1:g.73800009C>T	GRCh37
NC_000002.10:g.73653517C>T	NCBI36
NG_011690.1:g.192130C>T , LRG_741:g.192130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10624C>T	ENSP00000507671.1:p.Gln3542Ter
ENST00000682801.1:c.10624C>T	ENSP00000507862.1:p.Gln3542Ter
ENST00000682859.1:c.10624C>T	ENSP00000508222.1:p.Gln3542Ter
ENST00000683791.1:c.3710C>T
ENST00000684460.1:c.7905C>T
ENST00000684548.1:c.10624C>T	ENSP00000507421.1:p.Gln3542Ter
ENST00000684590.1:c.5071C>T	ENSP00000507376.1:p.Gln1691Ter
ENST00000684656.1:c.7950C>T
ENST00000613296.6:c.11005C>T MANE Select	ENSP00000482968.1:p.Gln3669Ter
ENST00000651057.1:c.1159C>T	ENSP00000498504.1:p.Gln387Ter
ENST00000651434.1:c.2361C>T
ENST00000651750.1:c.393C>T
ENST00000652487.1:c.2102C>T
ENST00000423048.5:c.4496C>T	ENSP00000399833.1:n.4496C>T
ENST00000484298.5:c.10879C>T	ENSP00000478155.1:p.Gln3627Ter
ENST00000613296.4:c.11005C>T	ENSP00000482968.1:p.Gln3669Ter
ENST00000614410.4:c.11005C>T	ENSP00000479094.1:p.Gln3669Ter
ENST00000620466.4:n.4808C>T
NM_015120.4:c.11008C>T , LRG_741t1:c.11008C>T	NP_055935.4:p.Gln3670Ter
NM_001378454.1:c.11005C>T MANE Select	NP_001365383.1:p.Gln3669Ter