Canonical Allele Identifier: CA533691824

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73455156C>T , CM000664.2:g.73455156C>T	GRCh38
NC_000002.11:g.73682283C>T , CM000664.1:g.73682283C>T	GRCh37
NC_000002.10:g.73535791C>T	NCBI36
NG_011690.1:g.74404C>T , LRG_741:g.74404C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7541-6C>T MANE Select	NP_001365383.1:n.7541-6C>T
ENST00000613296.6:c.7541-6C>T MANE Select	ENSP00000482968.1:n.7541-6C>T
NM_015120.4:c.7544-6C>T , LRG_741t1:c.7544-6C>T	NP_055935.4:n.7544-6C>T
ENST00000423048.5:c.2372-6C>T	ENSP00000399833.1:n.2372-6C>T
ENST00000484298.5:c.7415-6C>T	ENSP00000478155.1:n.7415-6C>T
ENST00000613296.4:c.7541-6C>T	ENSP00000482968.1:n.7541-6C>T
ENST00000614410.4:c.7541-6C>T	ENSP00000479094.1:n.7541-6C>T
ENST00000620466.4:n.1344-6C>T
ENST00000651434.1:c.762-6C>T
ENST00000682565.1:c.7160-6C>T	ENSP00000507671.1:n.7160-6C>T
ENST00000682801.1:c.7160-6C>T	ENSP00000507862.1:n.7160-6C>T
ENST00000682859.1:c.7160-6C>T	ENSP00000508222.1:n.7160-6C>T
ENST00000683791.1:c.685+22865C>T
ENST00000684197.1:n.2510-6C>T
ENST00000684460.1:c.4612-6C>T
ENST00000684548.1:c.7160-6C>T	ENSP00000507421.1:n.7160-6C>T
ENST00000684590.1:c.1658-57C>T	ENSP00000507376.1:n.1658-57C>T
ENST00000684656.1:c.4612-6C>T