Canonical Allele Identifier: CA384151026

Gene: BHLHE41 SSPN

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.26122364G>A , CM000674.2:g.26122364G>A	GRCh38
NC_000012.11:g.26275297G>A , CM000674.1:g.26275297G>A	GRCh37
NC_000012.10:g.26166564G>A	NCBI36
NG_012011.2:g.5374G>A , LRG_209:g.5374G>A
NG_021173.1:g.7707C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242728.5:c.1151C>T (BHLHE41) MANE Select	ENSP00000242728.4:p.Pro384Leu
ENST00000242728.4:c.1151C>T (BHLHE41)	ENSP00000242728.4:p.Pro384Leu
ENST00000534829.5:n.101+212G>A (SSPN)
ENST00000538142.5:c.-31+212G>A (SSPN)	ENSP00000445360.1:n.-31+212G>A
NM_030762.2:c.1151C>T (BHLHE41)	NP_110389.1:p.Pro384Leu
XM_011520853.1:c.-31+212G>A (SSPN)	XP_011519155.1:n.-31+212G>A
XM_011520853.3:c.-31+212G>A (SSPN)	XP_011519155.1:n.-31+212G>A
NM_030762.3:c.1151C>T (BHLHE41) MANE Select	NP_110389.1:p.Pro384Leu