Canonical Allele Identifier: CA7567996
Community Standard Title: NM_001382347.1(MYO5A):c.4914C>G (p.Leu1638=)
Gene: MYO5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.52321396G>C , CM000677.2:g.52321396G>C GRCh38
NC_000015.9:g.52613593G>C , CM000677.1:g.52613593G>C GRCh37
NC_000015.8:g.50400885G>C NCBI36
NG_009887.1:g.212655C>G , LRG_86:g.212655C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001382347.1:c.4914C>G MANE Select NP_001369276.1:p.Leu1638=
ENST00000399233.7:c.4914C>G MANE Select ENSP00000382179.4:p.Leu1638=
NM_000259.3:c.4839C>G , LRG_86t1:c.4839C>G NP_000250.3:p.Leu1613=
NM_001142495.1:c.4758C>G NP_001135967.1:p.Leu1586=
NM_001142495.2:c.4758C>G NP_001135967.2:p.Leu1586=
NM_001382348.1:c.4986C>G NP_001369277.1:p.Leu1662=
NM_001382349.1:c.4911C>G NP_001369278.1:p.Leu1637=
ENST00000356338.10:c.4758C>G ENSP00000348693.6:p.Leu1586=
ENST00000356338.11:c.4833C>G ENSP00000348693.7:p.Leu1611=
ENST00000358212.10:c.4839C>G ENSP00000350945.7:p.Leu1613=
ENST00000399228.6:c.1410C>G ENSP00000382174.2:n.1410C>G
ENST00000399229.6:c.1029C>G ENSP00000382175.2:p.Leu343=
ENST00000399229.7:c.1440C>G ENSP00000382175.3:p.Leu480=
ENST00000399231.7:c.4839C>G ENSP00000382177.3:p.Leu1613=
ENST00000399231.8:c.4839C>G ENSP00000382177.3:p.Leu1613=
ENST00000399233.6:c.4839C>G ENSP00000382179.3:p.Leu1613=
ENST00000465290.2:n.697C>G
ENST00000553916.5:c.4833C>G ENSP00000451109.1:p.Leu1611=
ENST00000553916.6:c.4797C>G ENSP00000451109.2:p.Leu1599=
ENST00000556196.6:c.*4442C>G ENSP00000451178.1:n.*4442C>G
ENST00000613858.4:c.4758C>G ENSP00000481420.1:p.Leu1586=
ENST00000685194.1:c.2394C>G ENSP00000509314.1:p.Leu798=
ENST00000686166.1:n.423C>G
ENST00000686171.1:c.1038C>G ENSP00000509118.1:n.1038C>G
ENST00000686603.1:n.1109C>G
ENST00000686989.1:n.5124C>G
ENST00000687172.1:n.6640C>G
ENST00000687574.1:c.4758C>G ENSP00000510312.1:p.Leu1586=
ENST00000688074.1:c.2466C>G ENSP00000509404.1:p.Leu822=
ENST00000688792.1:n.2982C>G
ENST00000688798.1:c.1194C>G ENSP00000509340.1:n.1194C>G
ENST00000689601.1:n.3782C>G
ENST00000690802.1:n.465C>G
ENST00000692556.1:c.4830C>G ENSP00000510378.1:p.Leu1610=
ENST00000692646.1:c.2460C>G ENSP00000510243.1:p.Leu820=
ENST00000692874.1:n.1757C>G
XM_005254397.2:c.4914C>G XP_005254454.1:p.Leu1638=
XM_005254397.4:c.4914C>G XP_005254454.1:p.Leu1638=
XM_005254398.3:c.4914C>G XP_005254455.1:p.Leu1638=
XM_011521606.1:c.4920C>G XP_011519908.1:p.Leu1640=
XM_011521606.2:c.4986C>G XP_011519908.2:p.Leu1662=
XM_011521607.1:c.4911C>G XP_011519909.1:p.Leu1637=
XM_011521607.3:c.4977C>G XP_011519909.2:p.Leu1659=
XM_011521608.1:c.4845C>G XP_011519910.1:p.Leu1615=
XM_011521608.3:c.4911C>G XP_011519910.2:p.Leu1637=
XM_011521609.1:c.4839C>G XP_011519911.1:p.Leu1613=
XM_011521609.3:c.4905C>G XP_011519911.2:p.Leu1635=
XM_011521610.1:c.4836C>G XP_011519912.1:p.Leu1612=
XM_011521610.3:c.4902C>G XP_011519912.2:p.Leu1634=
XM_011521611.1:c.4764C>G XP_011519913.1:p.Leu1588=
XM_011521611.3:c.4830C>G XP_011519913.2:p.Leu1610=
XM_011521612.1:c.4755C>G XP_011519914.1:p.Leu1585=
XM_011521612.3:c.4821C>G XP_011519914.2:p.Leu1607=
XM_017022227.2:c.4878C>G XP_016877716.1:p.Leu1626=