Canonical Allele Identifier: CA344036466

Gene: ASPM

Linked Data

• dbSNP Id: rs1205363174
• gnomAD v4: 1-197117896-G-A
• MyVariant Identifiers: chr1:g.197087026G>A (hg19) ; chr1:g.197117896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197117896G>A , CM000663.2:g.197117896G>A	GRCh38
NC_000001.10:g.197087026G>A , CM000663.1:g.197087026G>A	GRCh37
NC_000001.9:g.195353649G>A	NCBI36
NG_015867.1:g.33799C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2000C>T
ENST00000367409.9:c.3958C>T MANE Select	ENSP00000356379.4:p.Leu1320Phe
ENST00000680265.1:c.3958C>T	ENSP00000505384.1:p.Leu1320Phe
ENST00000680710.1:c.3958C>T	ENSP00000506676.1:p.Leu1320Phe
ENST00000681879.1:c.4006C>T	ENSP00000505363.1:n.4006C>T
ENST00000294732.11:c.3958C>T	ENSP00000294732.7:p.Leu1320Phe
ENST00000367408.5:c.1708C>T	ENSP00000356378.1:p.Leu570Phe
ENST00000367409.8:c.3958C>T	ENSP00000356379.4:p.Leu1320Phe
ENST00000612785.1:c.562-15249C>T	ENSP00000479244.1:n.562-15249C>T
NM_001206846.1:c.3958C>T	NP_001193775.1:p.Leu1320Phe
NM_018136.4:c.3958C>T	NP_060606.3:p.Leu1320Phe
NM_018136.5:c.3958C>T MANE Select	NP_060606.3:p.Leu1320Phe
NM_001206846.2:c.3958C>T	NP_001193775.1:p.Leu1320Phe