Canonical Allele Identifier: CA413033003
Community Standard Title: NM_001257291.2(SLC9A7):c.1985T>C (p.Leu662Pro)
Gene: SLC9A7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.46607148A>G , CM000685.2:g.46607148A>G GRCh38
NC_000023.10:g.46466583A>G , CM000685.1:g.46466583A>G GRCh37
NC_000023.9:g.46351527A>G NCBI36
NG_012622.2:g.156890T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001257291.2:c.1985T>C MANE Select NP_001244220.1:p.Leu662Pro
ENST00000616978.5:c.1985T>C MANE Select ENSP00000480916.1:p.Leu662Pro
NM_001257291.1:c.1985T>C NP_001244220.1:p.Leu662Pro
NM_032591.2:c.1982T>C NP_115980.1:p.Leu661Pro
NM_032591.3:c.1982T>C NP_115980.1:p.Leu661Pro
ENST00000328306.4:c.1982T>C ENSP00000330320.4:p.Leu661Pro
ENST00000464933.5:n.355T>C
ENST00000489574.2:n.115T>C
ENST00000491894.4:n.202T>C
ENST00000616978.4:c.1985T>C ENSP00000480916.1:p.Leu662Pro
XM_005272681.3:c.1985T>C XP_005272738.1:p.Leu662Pro
XM_005272681.4:c.1985T>C XP_005272738.1:p.Leu662Pro
XM_005272682.3:c.1985T>C XP_005272739.1:p.Leu662Pro
XM_005272682.4:c.1985T>C XP_005272739.1:p.Leu662Pro
XM_006724564.2:c.1925T>C XP_006724627.1:p.Leu642Pro
XM_006724564.4:c.1925T>C XP_006724627.1:p.Leu642Pro
XM_011543990.1:c.1985T>C XP_011542292.1:p.Leu662Pro
XM_011543990.2:c.1985T>C XP_011542292.1:p.Leu662Pro
XM_011543992.1:c.1463-4878T>C XP_011542294.1:n.1463-4878T>C
XM_017029905.1:c.1985T>C XP_016885394.1:p.Leu662Pro
XM_017029906.2:c.1925T>C XP_016885395.1:p.Leu642Pro
XR_002958808.1:n.2118T>C