Canonical Allele Identifier: CA413104103

Gene: SHROOM4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50607970A>G , CM000685.2:g.50607970A>G	GRCh38
NC_000023.10:g.50350970A>G , CM000685.1:g.50350970A>G	GRCh37
NC_000023.9:g.50367710A>G	NCBI36
NG_011882.1:g.211075T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020717.5:c.3172T>C MANE Select	NP_065768.2:p.Phe1058Leu
ENST00000376020.9:c.3172T>C MANE Select	ENSP00000365188.2:p.Phe1058Leu
NM_020717.3:c.3172T>C	NP_065768.2:p.Phe1058Leu
NR_027121.1:n.3198T>C
NR_027121.3:n.3348T>C
NR_172068.1:n.3213T>C
NR_172069.1:n.3268T>C
NR_172070.1:n.3133T>C
ENST00000289292.11:c.3172T>C	ENSP00000289292.7:p.Phe1058Leu
ENST00000376020.6:c.3172T>C	ENSP00000365188.2:p.Phe1058Leu
ENST00000376020.8:c.3172T>C	ENSP00000365188.2:p.Phe1058Leu
ENST00000460112.3:c.2824T>C	ENSP00000421450.1:p.Phe942Leu
XM_006724590.2:c.2824T>C	XP_006724653.1:p.Phe942Leu
XM_006724591.2:c.2698T>C	XP_006724654.1:p.Phe900Leu
XM_011530800.1:c.3037T>C	XP_011529102.1:p.Phe1013Leu
XM_011530801.1:c.3172T>C	XP_011529103.1:p.Phe1058Leu
XM_017029682.2:c.3286T>C	XP_016885171.1:p.Phe1096Leu
XM_017029683.1:c.3151T>C	XP_016885172.1:p.Phe1051Leu
XM_017029684.1:c.2938T>C	XP_016885173.1:p.Phe980Leu
XM_017029685.2:c.3286T>C	XP_016885174.1:p.Phe1096Leu
XM_017029686.1:c.2812T>C	XP_016885175.1:p.Phe938Leu
XR_001755716.2:n.3417T>C
XR_001755717.2:n.3417T>C
XR_001755718.2:n.3417T>C
XR_938367.1:n.3290T>C
XR_938368.1:n.3290T>C