Canonical Allele Identifier: CA363778519

Gene: TULP1

Linked Data

• MyVariant Identifiers: chr6:g.35467785T>A (hg19) ; chr6:g.35500008T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500008T>A , CM000668.2:g.35500008T>A	GRCh38
NC_000006.11:g.35467785T>A , CM000668.1:g.35467785T>A	GRCh37
NC_000006.10:g.35575763T>A	NCBI36
NG_009077.1:g.17863A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000229771.11:c.1468A>T MANE Select	ENSP00000229771.6:p.Asn490Tyr
ENST00000229771.10:c.1468A>T	ENSP00000229771.6:p.Asn490Tyr
ENST00000322263.8:c.1309A>T	ENSP00000319414.4:p.Asn437Tyr
ENST00000614066.4:c.1462A>T	ENSP00000477534.1:p.Asn488Tyr
NM_001289395.1:c.1309A>T	NP_001276324.1:p.Asn437Tyr
NM_003322.4:c.1468A>T	NP_003313.3:p.Asn490Tyr
NM_003322.5:c.1468A>T	NP_003313.3:p.Asn490Tyr
NM_003322.6:c.1468A>T MANE Select	NP_003313.3:p.Asn490Tyr
NM_001289395.2:c.1309A>T	NP_001276324.1:p.Asn437Tyr