Canonical Allele Identifier: CA363778687

Gene: TULP1

Linked Data

• dbSNP Id: rs1768799166
• gnomAD v3: 6-35500046-A-G
• gnomAD v4: 6-35500046-A-G
• MyVariant Identifiers: chr6:g.35467823A>G (hg19) ; chr6:g.35500046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35500046A>G , CM000668.2:g.35500046A>G	GRCh38
NC_000006.11:g.35467823A>G , CM000668.1:g.35467823A>G	GRCh37
NC_000006.10:g.35575801A>G	NCBI36
NG_009077.1:g.17825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1430T>C MANE Select	ENSP00000229771.6:p.Leu477Pro
ENST00000229771.10:c.1430T>C	ENSP00000229771.6:p.Leu477Pro
ENST00000322263.8:c.1271T>C	ENSP00000319414.4:p.Leu424Pro
ENST00000614066.4:c.1424T>C	ENSP00000477534.1:p.Leu475Pro
NM_001289395.1:c.1271T>C	NP_001276324.1:p.Leu424Pro
NM_003322.4:c.1430T>C	NP_003313.3:p.Leu477Pro
NM_003322.5:c.1430T>C	NP_003313.3:p.Leu477Pro
NM_003322.6:c.1430T>C MANE Select	NP_003313.3:p.Leu477Pro
NM_001289395.2:c.1271T>C	NP_001276324.1:p.Leu424Pro