Canonical Allele Identifier: CA347283350

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799522C>A (hg19) ; chr2:g.73572395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572395C>A , CM000664.2:g.73572395C>A	GRCh38
NC_000002.11:g.73799522C>A , CM000664.1:g.73799522C>A	GRCh37
NC_000002.10:g.73653030C>A	NCBI36
NG_011690.1:g.191643C>A , LRG_741:g.191643C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10137C>A	ENSP00000507671.1:p.Phe3379Leu
ENST00000682801.1:c.10137C>A	ENSP00000507862.1:p.Phe3379Leu
ENST00000682859.1:c.10137C>A	ENSP00000508222.1:p.Phe3379Leu
ENST00000683791.1:c.3223C>A
ENST00000684460.1:c.7418C>A
ENST00000684548.1:c.10137C>A	ENSP00000507421.1:p.Phe3379Leu
ENST00000684590.1:c.4584C>A	ENSP00000507376.1:p.Phe1528Leu
ENST00000684656.1:c.7463C>A
ENST00000613296.6:c.10518C>A MANE Select	ENSP00000482968.1:p.Phe3506Leu
ENST00000651057.1:c.672C>A	ENSP00000498504.1:p.Phe224Leu
ENST00000651434.1:c.1874C>A
ENST00000652487.1:c.1615C>A
ENST00000423048.5:c.4009C>A	ENSP00000399833.1:n.4009C>A
ENST00000484298.5:c.10392C>A	ENSP00000478155.1:p.Phe3464Leu
ENST00000613296.4:c.10518C>A	ENSP00000482968.1:p.Phe3506Leu
ENST00000614410.4:c.10518C>A	ENSP00000479094.1:p.Phe3506Leu
ENST00000620466.4:n.4321C>A
NM_015120.4:c.10521C>A , LRG_741t1:c.10521C>A	NP_055935.4:p.Phe3507Leu
NM_001378454.1:c.10518C>A MANE Select	NP_001365383.1:p.Phe3506Leu