Canonical Allele Identifier: CA343997219

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057387G>T (hg19) ; chr1:g.197088257G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088257G>T , CM000663.2:g.197088257G>T	GRCh38
NC_000001.10:g.197057387G>T , CM000663.1:g.197057387G>T	GRCh37
NC_000001.9:g.195324010G>T	NCBI36
NG_015867.1:g.63438C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3447C>A
ENST00000367409.9:c.10160C>A MANE Select	ENSP00000356379.4:p.Ser3387Tyr
ENST00000680265.1:c.10382C>A	ENSP00000505384.1:p.Ser3461Tyr
ENST00000680710.1:c.10136C>A	ENSP00000506676.1:p.Ser3379Tyr
ENST00000294732.11:c.5405C>A	ENSP00000294732.7:p.Ser1802Tyr
ENST00000367408.5:c.3155C>A	ENSP00000356378.1:p.Ser1052Tyr
ENST00000367409.8:c.10160C>A	ENSP00000356379.4:p.Ser3387Tyr
ENST00000612785.1:c.4118C>A	ENSP00000479244.1:p.Ser1373Tyr
NM_001206846.1:c.5405C>A	NP_001193775.1:p.Ser1802Tyr
NM_018136.4:c.10160C>A	NP_060606.3:p.Ser3387Tyr
NM_018136.5:c.10160C>A MANE Select	NP_060606.3:p.Ser3387Tyr
NM_001206846.2:c.5405C>A	NP_001193775.1:p.Ser1802Tyr