Canonical Allele Identifier: CA363778956

Gene: TULP1

Linked Data

• dbSNP Id: rs1480273410
• COSMIC: COSM3430573
• MyVariant Identifiers: chr6:g.35467908G>T (hg19) ; chr6:g.35500131G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500131G>T , CM000668.2:g.35500131G>T	GRCh38
NC_000006.11:g.35467908G>T , CM000668.1:g.35467908G>T	GRCh37
NC_000006.10:g.35575886G>T	NCBI36
NG_009077.1:g.17740C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1345C>A MANE Select	ENSP00000229771.6:p.Arg449Ser
ENST00000229771.10:c.1345C>A	ENSP00000229771.6:p.Arg449Ser
ENST00000322263.8:c.1186C>A	ENSP00000319414.4:p.Arg396Ser
ENST00000495781.1:n.521C>A
ENST00000614066.4:c.1339C>A	ENSP00000477534.1:p.Arg447Ser
NM_001289395.1:c.1186C>A	NP_001276324.1:p.Arg396Ser
NM_003322.4:c.1345C>A	NP_003313.3:p.Arg449Ser
NM_003322.5:c.1345C>A	NP_003313.3:p.Arg449Ser
NM_003322.6:c.1345C>A MANE Select	NP_003313.3:p.Arg449Ser
NM_001289395.2:c.1186C>A	NP_001276324.1:p.Arg396Ser