Canonical Allele Identifier: CA363494277

Gene: NEU1

Linked Data

• COSMIC: COSM3624813
• MyVariant Identifiers: chr6:g.31829067C>A (hg19) ; chr6:g.31861290C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861290C>A , CM000668.2:g.31861290C>A	GRCh38
NC_000006.11:g.31829067C>A , CM000668.1:g.31829067C>A	GRCh37
NC_000006.10:g.31937046C>A	NCBI36
NG_008201.1:g.6643G>T
NG_023058.1:g.22757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.513G>T MANE Select	ENSP00000364782.4:p.Leu171Phe
ENST00000677054.1:n.1190G>T
ENST00000677512.1:n.621G>T
ENST00000678869.1:n.621G>T
ENST00000375631.4:c.513G>T	ENSP00000364782.4:p.Leu171Phe
ENST00000480384.1:n.542G>T
ENST00000491768.5:c.513G>T	ENSP00000433127.1:p.Leu171Phe
ENST00000495807.1:n.1081G>T
NM_000434.3:c.513G>T	NP_000425.1:p.Leu171Phe
NM_000434.4:c.513G>T MANE Select	NP_000425.1:p.Leu171Phe