Canonical Allele Identifier: CA2678413766

Gene: TULP1

Linked Data

• gnomAD v4: 6-35499930-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35499930G>A , CM000668.2:g.35499930G>A	GRCh38
NC_000006.11:g.35467707G>A , CM000668.1:g.35467707G>A	GRCh37
NC_000006.10:g.35575685G>A	NCBI36
NG_009077.1:g.17941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000229771.11:c.1495+51C>T MANE Select	ENSP00000229771.6:n.1495+51C>T
ENST00000229771.10:c.1495+51C>T	ENSP00000229771.6:n.1495+51C>T
ENST00000322263.8:c.1336+51C>T	ENSP00000319414.4:n.1336+51C>T
ENST00000614066.4:c.1489+51C>T	ENSP00000477534.1:n.1489+51C>T
NM_001289395.1:c.1336+51C>T	NP_001276324.1:n.1336+51C>T
NM_003322.4:c.1495+51C>T	NP_003313.3:n.1495+51C>T
NM_003322.5:c.1495+51C>T	NP_003313.3:n.1495+51C>T
NM_003322.6:c.1495+51C>T MANE Select	NP_003313.3:n.1495+51C>T
NM_001289395.2:c.1336+51C>T	NP_001276324.1:n.1336+51C>T