Canonical Allele Identifier: CA340574841

Gene: DAB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.57026004G>A , CM000663.2:g.57026004G>A	GRCh38
NC_000001.10:g.57491677G>A , CM000663.1:g.57491677G>A	GRCh37
NC_000001.9:g.57264265G>A	NCBI36
NG_046914.2:g.1229544C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001365792.1:c.763C>T MANE Select	NP_001352721.1:p.Pro255Ser
ENST00000371236.7:c.763C>T MANE Select	ENSP00000360280.1:p.Pro255Ser
NM_001353983.1:c.763C>T	NP_001340912.1:p.Pro255Ser
NM_001353983.2:c.763C>T	NP_001340912.1:p.Pro255Ser
NM_001353985.1:c.763C>T	NP_001340914.1:p.Pro255Ser
NM_001353985.2:c.763C>T	NP_001340914.1:p.Pro255Ser
NM_001353986.1:c.757C>T	NP_001340915.1:p.Pro253Ser
NM_001353986.2:c.757C>T	NP_001340915.1:p.Pro253Ser
NM_001365793.1:c.763C>T	NP_001352722.1:p.Pro255Ser
NM_001365796.1:c.763C>T	NP_001352725.1:p.Pro255Ser
NM_001379461.1:c.757C>T	NP_001366390.1:p.Pro253Ser
NM_001379462.1:c.763C>T	NP_001366391.1:p.Pro255Ser
NM_021080.3:c.763C>T	NP_066566.3:p.Pro255Ser
NM_021080.4:c.763C>T	NP_066566.3:p.Pro255Ser
NM_021080.5:c.763C>T	NP_066566.3:p.Pro255Ser
ENST00000371231.5:c.862C>T	ENSP00000360275.1:p.Pro288Ser
ENST00000371232.8:c.505C>T	ENSP00000360276.4:p.Pro169Ser
ENST00000371236.6:c.763C>T	ENSP00000360280.1:p.Pro255Ser
ENST00000414851.6:c.763C>T	ENSP00000387581.3:p.Pro255Ser
ENST00000420954.6:c.757C>T	ENSP00000395296.2:p.Pro253Ser
ENST00000485760.5:n.1518C>T
XR_001737649.1:n.1129+3859G>A
XR_001737650.1:n.1129+3859G>A
XR_001737652.1:n.673+3859G>A
XR_947402.1:n.573+3859G>A