Canonical Allele Identifier: CA1308800

Gene: ASPM

Linked Data

• ClinVar Variation Id: 234723
• ClinVar RCV Id: RCV000218238 ; RCV000763779
• dbSNP Id: rs141240137
• ExAC: 1:197057490 A / G
• gnomAD v2: 1-197057490-A-G
• gnomAD v3: 1-197088360-A-G
• gnomAD v4: 1-197088360-A-G
• MyVariant Identifiers: chr1:g.197057490A>G (hg19) ; chr1:g.197088360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088360A>G , CM000663.2:g.197088360A>G	GRCh38
NC_000001.10:g.197057490A>G , CM000663.1:g.197057490A>G	GRCh37
NC_000001.9:g.195324113A>G	NCBI36
NG_015867.1:g.63335T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3344T>C
ENST00000367409.9:c.10057T>C MANE Select	ENSP00000356379.4:p.Tyr3353His
ENST00000680265.1:c.10279T>C	ENSP00000505384.1:p.Tyr3427His
ENST00000680710.1:c.10033T>C	ENSP00000506676.1:p.Tyr3345His
ENST00000294732.11:c.5302T>C	ENSP00000294732.7:p.Tyr1768His
ENST00000367408.5:c.3052T>C	ENSP00000356378.1:p.Tyr1018His
ENST00000367409.8:c.10057T>C	ENSP00000356379.4:p.Tyr3353His
ENST00000612785.1:c.4015T>C	ENSP00000479244.1:p.Tyr1339His
NM_001206846.1:c.5302T>C	NP_001193775.1:p.Tyr1768His
NM_018136.4:c.10057T>C	NP_060606.3:p.Tyr3353His
NM_018136.5:c.10057T>C MANE Select	NP_060606.3:p.Tyr3353His
NM_001206846.2:c.5302T>C	NP_001193775.1:p.Tyr1768His