Canonical Allele Identifier: CA363778508

Gene: TULP1

Linked Data

• gnomAD v4: 6-35500006-G-T
• COSMIC: COSM1329728
• MyVariant Identifiers: chr6:g.35467783G>T (hg19) ; chr6:g.35500006G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500006G>T , CM000668.2:g.35500006G>T	GRCh38
NC_000006.11:g.35467783G>T , CM000668.1:g.35467783G>T	GRCh37
NC_000006.10:g.35575761G>T	NCBI36
NG_009077.1:g.17865C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000229771.11:c.1470C>A MANE Select	ENSP00000229771.6:p.Asn490Lys
ENST00000229771.10:c.1470C>A	ENSP00000229771.6:p.Asn490Lys
ENST00000322263.8:c.1311C>A	ENSP00000319414.4:p.Asn437Lys
ENST00000614066.4:c.1464C>A	ENSP00000477534.1:p.Asn488Lys
NM_001289395.1:c.1311C>A	NP_001276324.1:p.Asn437Lys
NM_003322.4:c.1470C>A	NP_003313.3:p.Asn490Lys
NM_003322.5:c.1470C>A	NP_003313.3:p.Asn490Lys
NM_003322.6:c.1470C>A MANE Select	NP_003313.3:p.Asn490Lys
NM_001289395.2:c.1311C>A	NP_001276324.1:p.Asn437Lys