Canonical Allele Identifier: CA344018305

Gene: ASPM

Linked Data

• dbSNP Id: rs1223985862
• gnomAD v4: 1-197143305-A-G
• MyVariant Identifiers: chr1:g.197112435A>G (hg19) ; chr1:g.197143305A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143305A>G , CM000663.2:g.197143305A>G	GRCh38
NC_000001.10:g.197112435A>G , CM000663.1:g.197112435A>G	GRCh37
NC_000001.9:g.195379058A>G	NCBI36
NG_015867.1:g.8390T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.947T>C MANE Select	ENSP00000356379.4:p.Leu316Pro
ENST00000679766.1:n.1164T>C
ENST00000680265.1:c.947T>C	ENSP00000505384.1:p.Leu316Pro
ENST00000680710.1:c.947T>C	ENSP00000506676.1:p.Leu316Pro
ENST00000681879.1:c.947T>C	ENSP00000505363.1:p.Leu316Pro
ENST00000294732.11:c.947T>C	ENSP00000294732.7:p.Leu316Pro
ENST00000367409.8:c.947T>C	ENSP00000356379.4:p.Leu316Pro
ENST00000612785.1:c.561+386T>C	ENSP00000479244.1:n.561+386T>C
NM_001206846.1:c.947T>C	NP_001193775.1:p.Leu316Pro
NM_018136.4:c.947T>C	NP_060606.3:p.Leu316Pro
NM_018136.5:c.947T>C MANE Select	NP_060606.3:p.Leu316Pro
NM_001206846.2:c.947T>C	NP_001193775.1:p.Leu316Pro