Canonical Allele Identifier: CA363778822

Gene: TULP1

Linked Data

• MyVariant Identifiers: chr6:g.35467857G>T (hg19) ; chr6:g.35500080G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500080G>T , CM000668.2:g.35500080G>T	GRCh38
NC_000006.11:g.35467857G>T , CM000668.1:g.35467857G>T	GRCh37
NC_000006.10:g.35575835G>T	NCBI36
NG_009077.1:g.17791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1396C>A MANE Select	ENSP00000229771.6:p.Pro466Thr
ENST00000229771.10:c.1396C>A	ENSP00000229771.6:p.Pro466Thr
ENST00000322263.8:c.1237C>A	ENSP00000319414.4:p.Pro413Thr
ENST00000495781.1:n.572C>A
ENST00000614066.4:c.1390C>A	ENSP00000477534.1:p.Pro464Thr
NM_001289395.1:c.1237C>A	NP_001276324.1:p.Pro413Thr
NM_003322.4:c.1396C>A	NP_003313.3:p.Pro466Thr
NM_003322.5:c.1396C>A	NP_003313.3:p.Pro466Thr
NM_003322.6:c.1396C>A MANE Select	NP_003313.3:p.Pro466Thr
NM_001289395.2:c.1237C>A	NP_001276324.1:p.Pro413Thr