Canonical Allele Identifier: CA344002346

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197059999C>A (hg19) ; chr1:g.197090869C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197090869C>A , CM000663.2:g.197090869C>A	GRCh38
NC_000001.10:g.197059999C>A , CM000663.1:g.197059999C>A	GRCh37
NC_000001.9:g.195326622C>A	NCBI36
NG_015867.1:g.60826G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2904G>T
ENST00000367409.9:c.9617G>T MANE Select	ENSP00000356379.4:p.Ser3206Ile
ENST00000680265.1:c.9839G>T	ENSP00000505384.1:p.Ser3280Ile
ENST00000680710.1:c.9593G>T	ENSP00000506676.1:p.Ser3198Ile
ENST00000294732.11:c.4862G>T	ENSP00000294732.7:p.Ser1621Ile
ENST00000367408.5:c.2612G>T	ENSP00000356378.1:p.Ser871Ile
ENST00000367409.8:c.9617G>T	ENSP00000356379.4:p.Ser3206Ile
ENST00000612785.1:c.3575G>T	ENSP00000479244.1:p.Ser1192Ile
NM_001206846.1:c.4862G>T	NP_001193775.1:p.Ser1621Ile
NM_018136.4:c.9617G>T	NP_060606.3:p.Ser3206Ile
NM_018136.5:c.9617G>T MANE Select	NP_060606.3:p.Ser3206Ile
NM_001206846.2:c.4862G>T	NP_001193775.1:p.Ser1621Ile