Canonical Allele Identifier: CA344007682

Gene: ASPM

Linked Data

• ClinVar Variation Id: 1461980
• ClinVar RCV Id: RCV001985585
• dbSNP Id: rs2125089562
• MyVariant Identifiers: chr1:g.197062358A>C (hg19) ; chr1:g.197093228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093228A>C , CM000663.2:g.197093228A>C	GRCh38
NC_000001.10:g.197062358A>C , CM000663.1:g.197062358A>C	GRCh37
NC_000001.9:g.195328981A>C	NCBI36
NG_015867.1:g.58467T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2405T>G
ENST00000367409.9:c.9118T>G MANE Select	ENSP00000356379.4:p.Tyr3040Asp
ENST00000680265.1:c.9340T>G	ENSP00000505384.1:p.Tyr3114Asp
ENST00000680710.1:c.9118T>G	ENSP00000506676.1:p.Tyr3040Asp
ENST00000294732.11:c.4363T>G	ENSP00000294732.7:p.Tyr1455Asp
ENST00000367408.5:c.2113T>G	ENSP00000356378.1:p.Tyr705Asp
ENST00000367409.8:c.9118T>G	ENSP00000356379.4:p.Tyr3040Asp
ENST00000612785.1:c.3076T>G	ENSP00000479244.1:p.Tyr1026Asp
NM_001206846.1:c.4363T>G	NP_001193775.1:p.Tyr1455Asp
NM_018136.4:c.9118T>G	NP_060606.3:p.Tyr3040Asp
NM_018136.5:c.9118T>G MANE Select	NP_060606.3:p.Tyr3040Asp
NM_001206846.2:c.4363T>G	NP_001193775.1:p.Tyr1455Asp