Canonical Allele Identifier: CA343997673

Gene: ASPM

Linked Data

• MyVariant Identifiers: chr1:g.197057433T>A (hg19) ; chr1:g.197088303T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088303T>A , CM000663.2:g.197088303T>A	GRCh38
NC_000001.10:g.197057433T>A , CM000663.1:g.197057433T>A	GRCh37
NC_000001.9:g.195324056T>A	NCBI36
NG_015867.1:g.63392A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3401A>T
ENST00000367409.9:c.10114A>T MANE Select	ENSP00000356379.4:p.Thr3372Ser
ENST00000680265.1:c.10336A>T	ENSP00000505384.1:p.Thr3446Ser
ENST00000680710.1:c.10090A>T	ENSP00000506676.1:p.Thr3364Ser
ENST00000294732.11:c.5359A>T	ENSP00000294732.7:p.Thr1787Ser
ENST00000367408.5:c.3109A>T	ENSP00000356378.1:p.Thr1037Ser
ENST00000367409.8:c.10114A>T	ENSP00000356379.4:p.Thr3372Ser
ENST00000612785.1:c.4072A>T	ENSP00000479244.1:p.Thr1358Ser
NM_001206846.1:c.5359A>T	NP_001193775.1:p.Thr1787Ser
NM_018136.4:c.10114A>T	NP_060606.3:p.Thr3372Ser
NM_018136.5:c.10114A>T MANE Select	NP_060606.3:p.Thr3372Ser
NM_001206846.2:c.5359A>T	NP_001193775.1:p.Thr1787Ser